ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA273541
Gene: TAFAZZIN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000107.1:p.Gly216Val
NM_000116.5:c.647G>T