ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580519629
Gene: TEKT5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_653275.1:p.Arg472Pro
CA7897989
NM_144674.2:c.1415G>C