Canonical Allele Identifier: PA916024917
Gene: TECR HGNC NCBI
ClinVar Allele:
39767
ClinVar RCV:
RCV000023795
ClinVar Variation:
30810
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308099.1:p.Pro197Leu
CA129481
NM_001321170.1:c.590C>T