ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825592999
Gene: CASK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119526.1:p.Thr584Ala
CA412993693
NM_001126054.2:c.1750A>G