ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA268182
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55084
ClinVar RCV Id:
RCV000112232
RCV001021741
RCV001359626
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Thr1349Pro
CA002583
NM_007294.4:c.4045A>C