ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916074238
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430022
ClinVar RCV Id:
RCV000493163
RCV000667745
RCV001731719
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Arg357Gln
CA269840817
NM_024344.1:c.1070G>A