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: PA2828435668

Gene: PSPH HGNC NCBI

Linked Data

ClinVar Variation Id: 13624

ClinVar RCV Id: RCV000014594

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357443.1:p.Met52Thr	CA123296 NM_001370514.1:c.155T>C