Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2826336155

Gene: POMGNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4000

ClinVar RCV Id: RCV000004207 RCV000411094 RCV000798530 RCV001091843 RCV002476922 RCV002512742 RCV003460424 RCV004532285

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001230695.2:p.Cys490Tyr	CA116564 NM_001243766.2:c.1469G>A