ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830322987
Gene: CAPN3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
192802
ClinVar RCV:
RCV000176251
RCV000386470
RCV003474930
ClinVar Variation:
195641
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Asp688His
CA346865
NM_173087.2:c.2062G>C