Canonical Allele Identifier: PA2829183367
Gene: EXT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 134208
ClinVar RCV Id: RCV000120881 RCV001068751 RCV003925188 RCV003237723
ClinVar Variation Id: 943667
ClinVar RCV Id: RCV001213904
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001376559.1:p.Met174Leu
CA159131
NM_001389630.1:c.520A>C
CA5954907
NM_001389630.1:c.520A>T