ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580301081
Gene: FPGS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2321751
ClinVar RCV Id:
RCV004168631
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004948.4:p.Gly495Ser
CA374964853
NM_004957.6:c.1483G>A