ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573317394
Gene: TSEN54
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1513715
ClinVar RCV Id:
RCV002018468
RCV002548780
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997229.2:p.Pro268Ala
CA294079001
NM_207346.3:c.802C>G