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: PA645473987

Gene: GLI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 383081

ClinVar RCV Id: RCV000438090 RCV000883417 RCV001703769

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000159.3:p.Thr669Ile	CA4230707 NM_000168.6:c.2006C>T