ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830024544
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282783
ClinVar RCV Id:
RCV000311426
RCV000489536
RCV003475897
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Pro82Leu
CA10604293
NM_024344.1:c.245C>T