ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573317357
Gene: TSEN54
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1508667
ClinVar RCV Id:
RCV002016269
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997229.2:p.Pro7Leu
CA401026826
NM_207346.3:c.20C>T