ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112494
Gene: AK1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000467.1:p.Tyr164Cys
CA128014
NM_000476.3:c.491A>G