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: PA101791

Gene: MPZ HGNC NCBI

Linked Data

ClinVar Variation Id: 242787

ClinVar RCV Id: RCV000541724 RCV000789491 RCV001508018

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000521.2:p.Ile114Thr	CA351444 NM_000530.7:c.341T>C