ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825043057
Gene: TAFAZZIN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1800112
ClinVar RCV Id:
RCV002460760
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000107.1:p.Leu205Phe
CA337288157
NM_000116.5:c.613C>T