ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139761976
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
967031
ClinVar RCV Id:
RCV001241846
RCV001288905
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775111.1:p.Gln6Arg
CA7511433
NM_173088.2:c.17A>G