ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829993467
Gene: CAPN3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000116542
RCV000489478
RCV001814062
RCV003474720
ClinVar Variation:
128570
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Arg742Gln
CA345536
NM_024344.1:c.2225G>A