ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829698139
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186137
ClinVar RCV Id:
RCV000165675
RCV001041837
RCV001077384
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ile1760Val
CA003583
NM_007297.4:c.5278A>G