ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825042942
Gene: TAFAZZIN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2506885
ClinVar RCV Id:
RCV003237254
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000107.1:p.Lys117Glu
CA415181988
NM_000116.5:c.349A>G