ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095456
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000152924
RCV000173975
RCV000762950
RCV001332159
RCV001813761
RCV003987377
ClinVar Variation:
166790
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Arg490Trp
CA233621
NM_000070.3:c.1468C>T