ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA241879
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195450
ClinVar RCV Id:
RCV000597464
RCV000798205
RCV003462280
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Leu712Phe
CA241878
NM_000070.3:c.2134C>T