ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110764
Gene: PHGDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3867
ClinVar RCV Id:
RCV000004071
RCV002251869
RCV003338378
RCV002482824
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006614.2:p.Val490Met
CA116475
NM_006623.4:c.1468G>A