ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA120830
Gene: PGK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9950
ClinVar RCV Id:
RCV000010628
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000282.1:p.Ile253Thr
CA120829
NM_000291.4:c.758T>C