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: PA645391333

Gene: TPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 427077

ClinVar RCV Id: RCV000489192 RCV001829405

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000382.3:p.Arg447Cys	CA217321529 NM_000391.4:c.1339C>T