ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830387458
Gene: TAFAZZIN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1051351
ClinVar RCV Id:
RCV001359374
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_851828.1:p.Ser228Leu
CA415185530
NM_181311.4:c.683C>T