ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139689687
Gene: TAFAZZIN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001222821
ClinVar Variation:
950993
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001290394.1:p.Pro94Leu
CA415180211
NM_001303465.2:c.281C>T