ClinGen Allele Registry
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Canonical Allele Identifier:
PA916074294
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217147
ClinVar RCV Id:
RCV000201096
RCV000520664
RCV000762949
RCV001814105
RCV003474968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Arg440Gln
CA347525
NM_024344.1:c.1319G>A