ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830322195
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217149
ClinVar RCV Id:
RCV000201031
RCV000710092
RCV003474969
RCV003387802
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Arg400His
CA347482
NM_173087.2:c.1199G>A