ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829683408
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2129609
ClinVar RCV Id:
RCV003050079
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Val1479Met
CA10592665
NM_007294.4:c.4435G>A