ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA112740
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000047772
RCV000111807
RCV000510045
RCV001284287
ClinVar Variation:
54512
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Asp749Tyr
CA001504
NM_007294.4:c.2245G>T