ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829688513
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
481471
ClinVar RCV Id:
RCV000566668
RCV003387884
RCV003645035
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Gly347Val
CA10599687
NM_007297.4:c.1040G>T