ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139717374
Gene: PHGDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
874455
ClinVar RCV Id:
RCV001097408
RCV001531010
RCV003339478
RCV004032023
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006614.2:p.Arg270Gln
CA1037273
NM_006623.4:c.809G>A