ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA173722
Gene: TSEN54
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000147776
ClinVar Variation:
160131
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997229.2:p.Leu504Pro
CA173721
NM_207346.3:c.1511T>C