ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829692335
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231131
ClinVar RCV Id:
RCV000220855
RCV000554549
RCV001582748
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ile1014Val
CA10580575
NM_007297.4:c.3040A>G