ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916066026
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_775110.1:p.Lys250Arg
CA7511103
NM_173087.2:c.749A>G