ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916022281
Gene: AK1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
33302
ClinVar RCV:
RCV000019925
ClinVar Variation:
18263
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305051.1:p.Arg144Trp
CA128011
NM_001318122.2:c.430C>T