ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829679483
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1788275
ClinVar RCV Id:
RCV002428368
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Pro747Leu
CA10597517
NM_007294.4:c.2240C>T