ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139747430
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
995061
ClinVar RCV Id:
RCV001288904
RCV001321442
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Ile506Leu
CA7511378
NM_024344.1:c.1516A>C