Allele Registry

Canonical Allele Identifier: PA159100

Gene: EXT1 HGNC NCBI

ClinVar RCV:

RCV000120873

RCV000315374

RCV000395683

RCV001355602

RCV003315752

ClinVar Variation:

134200

HGVS (amino-acid)	Matching Registered Transcripts
NP_000118.2:p.Val454Ile	CA159098 NM_000127.3:c.1360G>A