ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828271010
Gene: CASK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354650.1:p.Ala283Thr
CA329242357
NM_001367721.1:c.847G>A