ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829693671
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55035
ClinVar RCV Id:
RCV000048365
RCV000112207
RCV003157379
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ala1246Asp
CA002500
NM_007297.4:c.3737C>A