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: PA916048058

Gene: IGLL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 580208

ClinVar RCV Id: RCV000703680

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356835.1:p.Ala175Val	CA10143241 NM_001369906.1:c.524C>T