ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829717654
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496370
ClinVar RCV Id:
RCV000590330
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Val122Leu
CA10601415
NM_007300.4:c.364G>C