ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645490852
Gene: TAFAZZIN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
234467
ClinVar RCV Id:
RCV000216620
RCV000695963
RCV000769551
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000107.1:p.Arg253Gln
CA10562431
NM_000116.5:c.758G>A