Allele Registry

Canonical Allele Identifier: PA645478134

Gene: EXT1 HGNC NCBI

ClinVar RCV:

RCV000307037

RCV000827733

RCV003153565

RCV003422357

ClinVar Variation:

361658

HGVS (amino-acid)	Matching Registered Transcripts
NP_000118.2:p.Val356Ile	CA4854241 NM_000127.3:c.1066G>A