ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829711314
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
233021
ClinVar RCV Id:
RCV000215915
RCV000530001
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Thr161Ile
CA10580693
NM_007299.4:c.482C>T