ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826775997
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4000
ClinVar RCV Id:
RCV000004207
RCV000411094
RCV000798530
RCV001091843
RCV002476922
RCV002512742
RCV003460424
RCV004532285
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277058.2:p.Cys468Tyr
CA116564
NM_001290129.2:c.1403G>A