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: PA2825805361

Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 623681

ClinVar RCV Id: RCV000761650

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001136076.1:p.Tyr112Cys	CA339846912 NM_001142604.2:c.335A>G