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: PA2829180002

Gene: HTT HGNC NCBI

Linked Data

ClinVar Variation Id: 1651223

ClinVar RCV Id: RCV002151631

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001375421.1:p.Ile1091Met	CA2824092 NM_001388492.1:c.3273T>G