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: PA2580218053

Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2082296

ClinVar RCV Id: RCV002979939

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350624.1:p.Ile134Ser	CA339848862 NM_001363695.2:c.401T>G