Canonical Allele Identifier: PA247856
Gene: TSEN54 HGNC NCBI

Linked Data

ClinVar Variation Id: 198938
ClinVar RCV Id: RCV000180399 RCV000836496 RCV001127783
ClinVar Variation Id: 498601
ClinVar RCV Id: RCV000598084 RCV003139892
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_997229.2:p.Arg374Gly
CA247855
NM_207346.3:c.1120C>G
CA658798972
NM_207346.3:c.1120_1122delinsGGC