ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830323903
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282411
ClinVar RCV Id:
RCV000295812
RCV000711016
RCV001420333
RCV003323488
RCV003475893
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775111.1:p.Arg257Trp
CA10604167
NM_173088.2:c.769C>T