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: PA1139698258

Gene: MPZ HGNC NCBI

Linked Data

ClinVar Variation Id: 872512

ClinVar RCV Id: RCV001093012 RCV001856276

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001302420.1:p.Asp121Asn	CA343349091 NM_001315491.2:c.361G>A