ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829698118
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000132500
RCV001076053
ClinVar Variation:
142988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.His1758Tyr
CA003578
NM_007297.4:c.5272C>T