ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916074235
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281254
ClinVar RCV Id:
RCV000389096
RCV000711013
RCV003463741
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Arg355Trp
CA7511239
NM_024344.1:c.1063C>T