ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830024781
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290267
ClinVar RCV Id:
RCV000313399
RCV001240554
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Arg242Lys
CA7511098
NM_024344.1:c.725G>A