ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA267468
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54255
ClinVar RCV Id:
RCV000047479
RCV000083170
RCV000478226
RCV000575874
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ile483Thr
CA000970
NM_007294.4:c.1448T>C