Allele Registry

Canonical Allele Identifier: PA102731

Gene: EXT1 HGNC NCBI

ClinVar RCV:

RCV000002606

RCV000255752

RCV001003500

RCV002512681

ClinVar Variation:

2500

HGVS (amino-acid)	Matching Registered Transcripts
NP_000118.2:p.Arg340Cys	CA252315 NM_000127.3:c.1018C>T