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: PA916021481

Gene: MPZ HGNC NCBI

Linked Data

ClinVar Variation Id: 14172

ClinVar RCV Id: RCV000015235 RCV000425572 RCV001807729

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001302420.1:p.Ile135Thr	CA257146 NM_001315491.2:c.404T>C