Canonical Allele Identifier: PA645478127
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419313
ClinVar RCV Id: RCV000486275 RCV003497852
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000118.2:p.Tyr271Cys
CA16618590
NM_000127.3:c.812A>G