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: PA2826673178

Gene: TRPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1367966

ClinVar RCV Id: RCV001865156 RCV003434339

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001269831.1:p.Gln1248Arg