ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829692068
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000214217
RCV001853574
ClinVar Variation:
232042
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Leu952Arg
CA10580584
NM_007297.4:c.2855T>G