ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247407
Gene: TSEN54
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198637
ClinVar RCV Id:
RCV000180028
RCV000765396
RCV003155107
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997229.2:p.Arg208Trp
CA247406
NM_207346.3:c.622C>T