Canonical Allele Identifier: PA2829182904
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_001376557.1:p.Met174Leu
CA159131
NM_001389628.1:c.520A>C
CA5954907
NM_001389628.1:c.520A>T