Allele Registry

Canonical Allele Identifier: PA102740

Gene: EXT1 HGNC NCBI

ClinVar Allele:

259892

ClinVar RCV:

RCV000254839

RCV000630812

RCV001263553

ClinVar Variation:

265129

HGVS (amino-acid)	Matching Registered Transcripts
NP_000118.2:p.Arg340His	CA4854266 NM_000127.3:c.1019G>A