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: PA2573196230

Gene: MPZ HGNC NCBI

Linked Data

ClinVar Variation Id: 1675390

ClinVar RCV Id: RCV002211119

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001302420.1:p.Ile112Ser	CA343349283 NM_001315491.2:c.335T>G