ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830387705
Gene: TAFAZZIN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
451312
ClinVar RCV Id:
RCV000521921
RCV001078968
RCV001167616
RCV001167617
RCV002461274
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_851829.1:p.Ala240Val
CA10562432
NM_181312.4:c.719C>T