ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829690983
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
441329
ClinVar RCV Id:
RCV000509670
RCV002225642
RCV004003568
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Arg709Lys
CA10597465
NM_007297.4:c.2126G>A