ClinGen Allele Registry
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Canonical Allele Identifier:
PA168872
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.7047771236
Score
-2.680203122
Score
-2.025644729
Linked Data - NCBI & NCI
ClinVar Allele:
69099
ClinVar RCV:
RCV000077503
RCV000131905
RCV000212153
RCV000412727
RCV000496638
RCV001270347
RCV002250529
ClinVar Variation:
54432
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Met1Val