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: PA916048564

Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 2203318

ClinVar RCV Id: RCV002651648

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357587.1:p.Leu385Pro	CA278302 NM_001370658.1:c.1154T>C