ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830387703
Gene: TAFAZZIN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000216620
RCV000695963
RCV000769551
ClinVar Variation:
234467
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_851829.1:p.Arg239Gln
CA10562431
NM_181312.4:c.716G>A