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: PA2826590766

Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 156003

ClinVar RCV Id: RCV000144060

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268653.2:p.Thr214Ile	CA278439 NM_001281724.3:c.641C>T