ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658704169
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
491193
ClinVar RCV Id:
RCV000583425
RCV001370800
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Thr293Ile
CA10600319
NM_007294.4:c.878C>T