ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830387876
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_851830.1:p.Pro181Leu
CA308803
NM_181313.4:c.542C>T