Canonical Allele Identifier: PA173705
Gene: TSEN54 HGNC NCBI

Linked Data

ClinVar Variation Id: 160123
ClinVar RCV Id: RCV000147767 RCV000295979 RCV000990060 RCV000713892 RCV001840052 RCV001840053
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_997229.2:p.Lys347Asn
CA173704
NM_207346.3:c.1041G>C
CA401029707
NM_207346.3:c.1041G>T