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: PA2829887430

Gene: APPL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2231647

ClinVar RCV Id: RCV004093795

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_060641.2:p.Arg470Cys	CA6759525 NM_018171.5:c.1408C>T