ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742021118
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3063866
ClinVar RCV Id:
RCV003988454
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Ser260Phe
CA391998368
NM_173087.2:c.779C>T