ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829683113
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2748373
ClinVar RCV Id:
RCV003531134
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Leu1442Gln
CA10593071
NM_007294.4:c.4325T>A