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: PA325727

Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 36014

ClinVar RCV Id: RCV000212490 RCV000621307 RCV001184306 RCV001225861 RCV003996122

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001934.2:p.Ile293Leu	CA022342 NM_001943.5:c.877A>T CA402135529 NM_001943.5:c.877A>C