ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827033305
Gene: AK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
18258
ClinVar RCV Id:
RCV000019920
RCV002281711
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001306071.1:p.Arg144Cys
CA128000
NM_001319142.1:c.430C>T