ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830323651
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000311834
RCV000725206
RCV003475900
ClinVar Variation:
283099
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775111.1:p.Ala190Val
CA10604398
NM_173088.2:c.569C>T