ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829690058
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000217671
RCV001061904
ClinVar Variation:
232057
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Arg571Lys
CA10580646
NM_007297.4:c.1712G>A