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: PA916021433

Gene: MPZ HGNC NCBI

Linked Data

ClinVar Variation Id: 449538

ClinVar RCV Id: RCV000523011 RCV000790095 RCV000704378

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001302420.1:p.Ser111Cys	CA343349293 NM_001315491.2:c.332C>G