ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830321904
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468639
ClinVar RCV Id:
RCV000537811
RCV002282221
RCV002491061
RCV003144340
RCV003476295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Gly319Ser
CA7511243
NM_173087.2:c.955G>A