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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:
CA2645461821
Gene: FAAH
HGNC
NCBI
Linked Data
dbSNP Id:
rs2148454958
gnomAD v4:
1-46413704-A-AC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.46413709dup , CM000663.2:g.46413709dup
GRCh38
NC_000001.10:g.46879381dup , CM000663.1:g.46879381dup
GRCh37
NC_000001.9:g.46651968dup
NCBI36
NG_012195.1:g.24443dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000243167.9:c.*134dup
MANE Select
ENSP00000243167.8:n.*134dup
ENST00000243167.8:c.*134dup
ENSP00000243167.8:n.*134dup
ENST00000484697.5:c.907dup
NM_001441.2:c.*134dup
NP_001432.2:n.*134dup
NM_001441.3:c.*134dup
MANE Select
NP_001432.2:n.*134dup
Search 100 bp 5'
Search 100 bp 3'