ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658720566
Gene: PHGDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496330
ClinVar RCV Id:
RCV000590257
RCV000811823
RCV001334580
RCV002282250
RCV002532353
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006614.2:p.Arg491Trp
CA1037474
NM_006623.4:c.1471C>T