ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830323677
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195450
ClinVar RCV Id:
RCV000597464
RCV000798205
RCV003462280
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775111.1:p.Leu200Phe
CA241878
NM_173088.2:c.598C>T