ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830024739
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496915
ClinVar RCV Id:
RCV000673077
RCV000597389
RCV002509457
RCV003471951
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Gly214Ser
CA7511089
NM_024344.1:c.640G>A