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: PA2826673494

Gene: TRPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5575

ClinVar RCV Id: RCV000005917

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269832.1:p.Thr907Pro	CA117610 NM_001282903.3:c.2719A>C