ClinGen Allele Registry
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Canonical Allele Identifier:
PA916065771
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000201045
RCV001781586
RCV001814106
RCV003330572
RCV003474971
ClinVar Variation:
217151
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Arg49His
CA347493
NM_173087.2:c.146G>A