ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573075800
Gene: TBCEL-TECTA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365690.1:p.Leu2134Phe
CA353706
NM_001378761.1:c.6400C>T