ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916019590
Gene: TAFAZZIN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
202094
ClinVar RCV Id:
RCV000183909
RCV000819578
RCV002460960
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001290394.1:p.Pro229Leu
CA308803
NM_001303465.2:c.686C>T