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: PA2826883920

Gene: TAFAZZIN HGNC NCBI

Linked Data

ClinVar Variation Id: 202092

ClinVar RCV Id: RCV000183907 RCV002516936

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001290394.1:p.Arg112Cys	CA308799 NM_001303465.2:c.334C>T