ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA173718
Gene: TSEN54
HGNC
NCBI
Linked Data
ClinVar Variation Id:
137759
ClinVar RCV Id:
RCV000147774
RCV000325339
RCV001518249
RCV001839921
RCV001839923
RCV001839922
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997229.2:p.Pro483Ala
CA173717
NM_207346.3:c.1447C>G