Canonical Allele Identifier: PA2741809948
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2772987
ClinVar RCV Id: RCV003499497

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000118.2:p.Arg346Ser
CA371893249
NM_000127.3:c.1038A>T
CA371893250
NM_000127.3:c.1038A>C