ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915980172
Gene: PHGDH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000994084
ClinVar Variation:
806199
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006614.2:p.Ser498Pro
CA341854318
NM_006623.4:c.1492T>C