ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830322484
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000370228
RCV003517180
ClinVar Variation:
290547
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Phe521Ser
CA10606813
NM_173087.2:c.1562T>C