ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829693272
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
824070
ClinVar RCV Id:
RCV001020882
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Leu1183Ile
CA10594588
NM_007297.4:c.3547T>A