ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830387785
Gene: TAFAZZIN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237009
ClinVar RCV Id:
RCV000230434
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_851830.1:p.Pro76Arg
CA10583938
NM_181313.4:c.227C>G