ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580534790
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1925279
ClinVar RCV Id:
RCV002618132
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Pro245Ser
CA391998261
NM_173087.2:c.733C>T