Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2829183259

Gene: EXT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 304572

ClinVar RCV Id: RCV000371317 RCV000663343

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001376559.1:p.Ser4Leu	CA5954803 NM_001389630.1:c.11C>T