ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827033133
Gene: AK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
460288
ClinVar RCV Id:
RCV000537869
RCV003942766
RCV001726221
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001306070.1:p.Arg17Gly
CA747279
NM_001319141.1:c.49C>G