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: PA2830387551

Gene: TAFAZZIN HGNC NCBI

Linked Data

ClinVar Variation Id: 237009

ClinVar RCV Id: RCV000230434

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_851829.1:p.Pro76Arg	CA10583938 NM_181312.4:c.227C>G