Canonical Allele Identifier: PA2825048072
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3091273
ClinVar RCV Id: RCV004385659

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000118.2:p.Lys306Asn
CA371914758
NM_000127.3:c.918G>T
CA371914759
NM_000127.3:c.918G>C