ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829692070
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3226127
ClinVar RCV Id:
RCV004519362
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Glu953Val
CA10596000
NM_007297.4:c.2858A>T