ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829692274
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1728128
ClinVar RCV Id:
RCV002320760
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser1002Cys
CA10595690
NM_007297.4:c.3005C>G