ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110720
Gene: PHGDH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000128434
RCV000675136
RCV002222400
RCV004019724
ClinVar Variation:
139535
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006614.2:p.Arg163Gln
CA163242
NM_006623.4:c.488G>A