ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830387646
Gene: TAFAZZIN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
51434
ClinVar RCV:
RCV000035097
ClinVar Variation:
42264
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_851829.1:p.Gly183Glu
CA261286
NM_181312.4:c.548G>A