ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA270728
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.0929733933
Score
0.1574390553
Score
0.0445073864
Linked Data - NCBI & NCI
ClinVar Allele:
165995
ClinVar RCV:
RCV000144213
RCV001041257
ClinVar Variation:
156196
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Gly1801Ser
CA003551
NM_007294.4:c.5401G>A