ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829716433
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000230445
RCV001072911
RCV002347900
ClinVar Variation:
240822
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Gly680Asp
CA10583546
NM_007299.4:c.2039G>A