ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827032988
Gene: AK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450394
ClinVar RCV Id:
RCV000521693
RCV001315577
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001306068.1:p.Asp130Asn
CA20307279
NM_001319139.2:c.388G>A