ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA268336
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.8084644294
Score
-2.2946573072
Score
-1.6376239836
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000112507
RCV000508636
RCV001023609
RCV001853019
ClinVar Variation:
55416
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ser1715Asn
CA003266
NM_007294.4:c.5144G>A