ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916000079
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
650348
ClinVar RCV Id:
RCV000805482
RCV003158182
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Thr1246Ile
CA10594491
NM_007300.4:c.3737C>T