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: PA2830387320

Gene: TAFAZZIN HGNC NCBI

Linked Data

ClinVar Variation Id: 403954

ClinVar RCV Id: RCV000471301

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_851828.1:p.Arg94Leu	CA16616656 NM_181311.4:c.281G>T