ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829698111
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001072896
ClinVar Variation:
865470
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Val1757Ala
CA10590643
NM_007297.4:c.5270T>C