ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA268367
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.7807524126
Score
-2.2321620935
Score
-2.8607870682
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000112580
RCV000567938
RCV001378200
RCV001811343
ClinVar Variation:
55482
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Arg1751Pro
CA003392
NM_007294.4:c.5252G>C