ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829693708
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
481466
ClinVar RCV Id:
RCV000574192
RCV000589904
RCV000694539
RCV004000921
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser1250Thr
CA10594184
NM_007297.4:c.3748T>A