ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139764592
Gene: TAFAZZIN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
835434
ClinVar RCV Id:
RCV001036319
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_851830.1:p.Arg85Cys
CA10562295
NM_181313.4:c.253C>T