ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645463961
Gene: PHGDH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006614.2:p.Thr125Met
CA1037066
NM_006623.4:c.374C>T