ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829691429
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
491047
ClinVar RCV Id:
RCV000582745
RCV000706969
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Gln808Leu
CA058462
NM_007297.4:c.2423A>T