Canonical Allele Identifier: PA658675194
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 449481
ClinVar RCV Id: RCV000520277 RCV001857953
ClinVar Variation Id: 859847
ClinVar RCV Id: RCV001066050
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000118.2:p.Gly268Arg
CA371915018
NM_000127.3:c.802G>C
CA371915019
NM_000127.3:c.802G>A