ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA102470
Gene: TAFAZZIN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
35505
ClinVar RCV Id:
RCV000029171
RCV000283338
ClinVar Variation Id:
42266
ClinVar RCV Id:
RCV000035099
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000107.1:p.Gly240Arg
CA260077
NM_000116.5:c.718G>A
CA261289
NM_000116.5:c.718G>C