ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829993358
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283099
ClinVar RCV Id:
RCV000311834
RCV000725206
RCV003475900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Ala696Val
CA10604398
NM_024344.1:c.2087C>T