ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580301082
Gene: FPGS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2353755
ClinVar RCV Id:
RCV004197149
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004948.4:p.Ala498Thr
CA5252496
NM_004957.6:c.1492G>A