ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915980126
Gene: PHGDH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006614.2:p.Val316Met
CA1037324
NM_006623.4:c.946G>A