ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580570793
Gene: TSEN54
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1935982
ClinVar RCV Id:
RCV002636181
RCV002636180
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997229.2:p.Pro324Leu
CA8764314
NM_207346.3:c.971C>T