ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139761942
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
835867
ClinVar RCV Id:
RCV001036859
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Asp230His
CA391998163
NM_173087.2:c.688G>C