ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829689117
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229946
ClinVar RCV Id:
RCV000213319
RCV002518249
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Pro443Leu
CA10580665
NM_007297.4:c.1328C>T