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: PA2573208463

Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1446591

ClinVar RCV Id: RCV001987746

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350624.1:p.His39_Gly40del	CA2573132333 NM_001363695.2:c.115_120del