ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829992979
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
967031
ClinVar RCV Id:
RCV001241846
RCV001288905
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Gln518Arg
CA7511433
NM_024344.1:c.1553A>G