ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573250489
Gene: PHGDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1505198
ClinVar RCV Id:
RCV002020422
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006614.2:p.Arg491Gln
CA341854194
NM_006623.4:c.1472G>A