ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499247320
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_001290394.1:p.Ser262Leu
CA415185530
NM_001303465.2:c.785C>T