ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825184712
Gene: AK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2522727
ClinVar RCV Id:
RCV004297842
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000467.1:p.Arg138Cys
CA374947370
NM_000476.3:c.412C>T