ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830387716
Gene: TAFAZZIN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430910
ClinVar RCV Id:
RCV000523344
RCV000611350
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_851829.1:p.Lys250Glu
CA415185611
NM_181312.4:c.748A>G