ClinGen Allele Registry
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Canonical Allele Identifier:
PA916074232
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
315895
ClinVar RCV Id:
RCV000261355
RCV000318913
RCV000485851
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Glu349Gln
CA7511234
NM_024344.1:c.1045G>C