ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830322310
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166790
ClinVar RCV Id:
RCV000152924
RCV000173975
RCV000762950
RCV001332159
RCV001813761
RCV003987377
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Arg442Trp
CA233621
NM_173087.2:c.1324C>T