Canonical Allele Identifier: PA102750
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2495
ClinVar RCV Id: RCV000002601 RCV001003502
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000118.2:p.Arg340Leu
CA252308
NM_000127.3:c.1019G>T