Canonical Allele Identifier: PA2830527283
Gene: EXT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2632452
ClinVar RCV Id: RCV003406158

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_997005.1:p.Phe352Leu
CA380169256
NM_207122.2:c.1054T>C
CA380169267
NM_207122.2:c.1056C>G
CA380169269
NM_207122.2:c.1056C>A