ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915997496
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
482905
ClinVar RCV Id:
RCV000573001
RCV000820698
RCV001527065
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Pro698Leu
CA10597813
NM_007300.4:c.2093C>T