ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA268314
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000112476
RCV001853017
RCV002336188
ClinVar Variation:
55365
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Thr1685Ile
CA003175
NM_007294.4:c.5054C>T