ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830024510
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217148
ClinVar RCV Id:
RCV000201177
RCV000762947
RCV001781585
RCV003235123
RCV003462346
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Ala45Thr
CA347575
NM_024344.1:c.133G>A