Canonical Allele Identifier: PA2829183149
Gene: EXT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 450237
ClinVar RCV Id: RCV000522730

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001376557.1:p.Asn493Lys
CA380179283
NM_001389628.1:c.1479T>A
CA380179284
NM_001389628.1:c.1479T>G