ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827032990
Gene: AK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001306068.1:p.Ala134Asp
CA235742
NM_001319139.2:c.401C>A