ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA209199
Gene: TSEN54
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212455
ClinVar RCV Id:
RCV000194787
RCV000307439
RCV000725869
RCV000765395
RCV002517984
RCV003907709
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997229.2:p.Ser28Leu
CA209198
NM_207346.3:c.83C>T