ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741854670
Gene: TAFAZZIN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2506888
ClinVar RCV Id:
RCV003237257
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001290394.1:p.Leu216Pro
CA415184385
NM_001303465.2:c.647T>C