ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580347816
Gene: PHGDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1988138
ClinVar RCV Id:
RCV002781148
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006614.2:p.Arg294Leu
CA341851325
NM_006623.4:c.881G>T