Canonical Allele Identifier: PA2573169316
Gene: EXT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1375603
ClinVar RCV Id: RCV001902482

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000392.3:p.Leu383Phe
CA5955084
NM_000401.3:c.1149G>T
CA380169227
NM_000401.3:c.1149G>C