Allele Registry

Canonical Allele Identifier: PA658675194

Gene: EXT1 HGNC NCBI

ClinVar RCV:

RCV000520277

RCV001066050

RCV001857953

ClinVar Variation:

449481

859847

HGVS (amino-acid)	Matching Registered Transcripts
NP_000118.2:p.Gly268Arg	CA371915018 NM_000127.3:c.802G>C CA371915019 NM_000127.3:c.802G>A