ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830387914
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_851830.1:p.Ser214Leu
CA415185530
NM_181313.4:c.641C>T