ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830387763
Gene: TAFAZZIN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000496045
RCV001062495
RCV001764477
ClinVar Variation:
431031
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_851830.1:p.Glu52Lys
CA415179650
NM_181313.4:c.154G>A