ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826336278
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1699043
ClinVar RCV Id:
RCV002272900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230695.2:p.Ser550Gly
CA340171743
NM_001243766.2:c.1648A>G