ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915992484
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
240822
ClinVar RCV Id:
RCV000230445
RCV001072911
RCV002347900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Val705Ile
CA10583546
NM_007298.3:c.2113G>A