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: PA2499247319

Gene: TAFAZZIN HGNC NCBI

Linked Data

ClinVar Variation Id: 1062906

ClinVar RCV Id: RCV001372676

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001290394.1:p.Arg202His	CA10562386 NM_001303465.2:c.605G>A