ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830387706
Gene: TAFAZZIN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
202096
ClinVar RCV Id:
RCV000183911
RCV000817139
RCV004020236
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_851829.1:p.Glu241Lys
CA308807
NM_181312.4:c.721G>A