ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829993341
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499036
ClinVar RCV Id:
RCV000597401
RCV000644983
RCV002476300
RCV003459469
RCV003387895
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Arg692His
CA7511710
NM_024344.1:c.2075G>A