Canonical Allele Identifier: PA2830527278
Gene: EXT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1375603
ClinVar RCV Id: RCV001902482

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_997005.1:p.Leu350Phe
CA5955084
NM_207122.2:c.1050G>T
CA380169227
NM_207122.2:c.1050G>C