ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916074369
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
502152
ClinVar RCV Id:
RCV000597737
RCV000727466
RCV003471964
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Ile506Thr
CA391999998
NM_024344.1:c.1517T>C