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: PA2829182992

Gene: EXT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 134214

ClinVar RCV Id: RCV000120887 RCV000945936

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001376557.1:p.Arg299His	CA159156 NM_001389628.1:c.896G>A