ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580179728
Gene: PASK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001239048.1:p.Pro1178Leu
CA2212722
NM_001252119.2:c.3533C>T