ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829721027
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000168281
RCV000708677
RCV004554741
ClinVar Variation:
188293
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ile1031Val
CA002024
NM_007300.4:c.3091A>G