ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830387575
Gene: TAFAZZIN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
202092
ClinVar RCV Id:
RCV000183907
RCV002516936
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_851829.1:p.Arg94Cys
CA308799
NM_181312.4:c.280C>T