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: PA2830387319

Gene: TAFAZZIN HGNC NCBI

Linked Data

ClinVar Variation Id: 202092

ClinVar RCV Id: RCV000183907 RCV002516936

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_851828.1:p.Arg94Cys	CA308799 NM_181311.4:c.280C>T