ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579757465
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
865133
ClinVar RCV Id:
RCV001072488
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Lys38Met
CA10601929
NM_007294.4:c.113A>T