Canonical Allele Identifier: PA645471109
Gene: CASK HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003679.2:p.Asp794Glu
CA16621396
NM_003688.3:c.2382C>G
CA412990371
NM_003688.3:c.2382C>A