ClinGen Allele Registry
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Canonical Allele Identifier:
PA178075
Gene: TAFAZZIN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
165328
ClinVar RCV Id:
RCV000151966
RCV000705533
RCV001719939
RCV002460933
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000107.1:p.His111Tyr
CA178074
NM_000116.5:c.331C>T