ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830321841
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
315895
ClinVar RCV Id:
RCV000261355
RCV000318913
RCV000485851
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Glu301Gln
CA7511234
NM_173087.2:c.901G>C