×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915992456
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
651964
ClinVar RCV Id:
RCV000807420
RCV001178400
RCV001077366
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Gly699Cys
CA10590655
NM_007298.3:c.2095G>T