ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829710119
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000577611
RCV000985438
RCV001326887
ClinVar Variation:
55531
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Asp1799His
CA003492
NM_007300.4:c.5395G>C