ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000103
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000563661
ClinVar Variation:
479202
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Leu1252Pro
CA10594462
NM_007300.4:c.3755T>C