ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915992193
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188293
ClinVar RCV Id:
RCV000168281
RCV000708677
RCV004554741
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ile984Val
CA002024
NM_007297.4:c.2950A>G