Canonical Allele Identifier: PA2499228629
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1071748
ClinVar RCV Id: RCV001384285
ClinVar Variation Id: 2841282
ClinVar RCV Id: RCV003604723

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000118.2:p.Cys355Tyr
CA371892768
NM_000127.3:c.1064G>A
CA2739268962
NM_000127.3:c.1064_1065delinsAT