Canonical Allele Identifier: PA159134
Gene: EXT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 134208
ClinVar Variation Id: 943667
ClinVar RCV Id: RCV001213904

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_997005.1:p.Met174Leu
CA159131
NM_207122.2:c.520A>C
CA5954907
NM_207122.2:c.520A>T