Canonical Allele Identifier: PA2830527476
Gene: EXT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 450237
ClinVar RCV Id: RCV000522730
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_997005.1:p.Asn493Lys
CA380179283
NM_207122.2:c.1479T>A
CA380179284
NM_207122.2:c.1479T>G