Allele Registry

Canonical Allele Identifier: PA658675200

Gene: EXT1 HGNC NCBI

ClinVar RCV:

RCV000531791

ClinVar Variation:

456065

HGVS (amino-acid)	Matching Registered Transcripts
NP_000118.2:p.Ala331Asp	CA371893338 NM_000127.3:c.992C>A