ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916074217
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285580
ClinVar RCV Id:
RCV000544623
RCV000711012
RCV002469098
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.His334Leu
CA7511211
NM_024344.1:c.1001A>T