ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573317362
Gene: TSEN54
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1497389
ClinVar RCV Id:
RCV001996056
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997229.2:p.Ser48Leu
CA401027086
NM_207346.3:c.143C>T