ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830024748
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288404
ClinVar RCV Id:
RCV000323826
RCV001068856
RCV003463771
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Glu217Lys
CA7511092
NM_024344.1:c.649G>A