ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645414555
Gene: TSEN54
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372660
ClinVar RCV Id:
RCV000413093
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997229.2:p.Ser174Asn
CA16043008
NM_207346.3:c.521G>A