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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA522577367
Gene: FAAH
HGNC
NCBI
Linked Data
dbSNP Id:
rs1176518397
gnomAD v2:
1-46879387-GA-G
gnomAD v3:
1-46413715-GA-G
gnomAD v4:
1-46413715-GA-G
MyVariant Identifiers:
chr1:g.46879388del (hg19)
chr1:g.46413716del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.46413717del , CM000663.2:g.46413717del
GRCh38
NC_000001.10:g.46879389del , CM000663.1:g.46879389del
GRCh37
NC_000001.9:g.46651976del
NCBI36
NG_012195.1:g.24451del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000243167.9:c.*142del
MANE Select
ENSP00000243167.8:n.*142del
ENST00000243167.8:c.*142del
ENSP00000243167.8:n.*142del
ENST00000484697.5:c.915del
NM_001441.2:c.*142del
NP_001432.2:n.*142del
NM_001441.3:c.*142del
MANE Select
NP_001432.2:n.*142del
Search 100 bp 5'
Search 100 bp 3'