ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA268369
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-3.7112869548
Score
-1.7702256819
Score
-3.1267811266
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000112581
RCV000563666
RCV001326888
RCV003321495
ClinVar Variation:
55483
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ala1752Pro
CA003394
NM_007294.4:c.5254G>C