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: PA2825805234

Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56175

ClinVar RCV Id: RCV000049586

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001136076.1:p.His39Gln	CA263468 NM_001142604.2:c.117T>A CA339850666 NM_001142604.2:c.117T>G