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: PA2826693698

Gene: AIPL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 954500

ClinVar RCV Id: RCV001226961

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001272328.1:p.Pro339Leu	CA287323721 NM_001285399.3:c.1016C>T