ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830322491
Gene: CAPN3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000270366
RCV001090169
RCV003517174
ClinVar Variation:
287131
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Arg524Pro
CA10605677
NM_173087.2:c.1571G>C