ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829678216
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1482193
ClinVar RCV Id:
RCV002025112
RCV003156974
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Asp390Ala
CA10599713
NM_007294.4:c.1169A>C