ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827033056
Gene: AK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001306069.1:p.Ser81Asn
CA747168
NM_001319140.1:c.242G>A