ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA222233
Gene: CASK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003679.2:p.His768Tyr
CA222232
NM_003688.3:c.2302C>T