ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA235744
Gene: AK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037543.1:p.Ala182Asp
CA235742
NM_013411.5:c.545C>A