ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830024791
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289752
ClinVar RCV Id:
RCV000369442
RCV000700400
RCV001267486
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Lys250Arg
CA7511103
NM_024344.1:c.749A>G