ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA207201
Gene: TSEN54
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212449
ClinVar RCV Id:
RCV000193607
RCV001330646
RCV001589071
RCV002517147
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997229.2:p.Arg353Trp
CA207200
NM_207346.3:c.1057C>T