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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:
CA2645461963
Gene: FAAH
HGNC
NCBI
Linked Data
gnomAD v4:
1-46413819-CA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.46413821del , CM000663.2:g.46413821del
GRCh38
NC_000001.10:g.46879493del , CM000663.1:g.46879493del
GRCh37
NC_000001.9:g.46652080del
NCBI36
NG_012195.1:g.24555del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000243167.9:c.*246del
MANE Select
ENSP00000243167.8:n.*246del
ENST00000243167.8:c.*246del
ENSP00000243167.8:n.*246del
ENST00000484697.5:c.1019del
NM_001441.2:c.*246del
NP_001432.2:n.*246del
NM_001441.3:c.*246del
MANE Select
NP_001432.2:n.*246del
Search 100 bp 5'
Search 100 bp 3'