ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA193967
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186137
ClinVar RCV Id:
RCV000165675
RCV001041837
RCV001077384
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ile1807Val
CA003583
NM_007294.4:c.5419A>G