ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580570739
Gene: TSEN54
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2144879
ClinVar RCV Id:
RCV003071156
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997229.2:p.Ala49Thr
CA8763977
NM_207346.3:c.145G>A