ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830322307
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217150
ClinVar RCV Id:
RCV000201199
RCV000516176
RCV002492925
RCV003474970
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Arg441Trp
CA347587
NM_173087.2:c.1321C>T