ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829697310
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000214759
RCV001076641
RCV001245538
ClinVar Variation:
231376
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Val1694Ile
CA10580493
NM_007297.4:c.5080G>A