Allele Registry

Canonical Allele Identifier: PA645478119

Gene: EXT1 HGNC NCBI

ClinVar RCV:

RCV000268096

RCV002058697

ClinVar Variation:

361662

HGVS (amino-acid)	Matching Registered Transcripts
NP_000118.2:p.Ser50Gly	CA4854410 NM_000127.3:c.148A>G