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: PA343907

Gene: MPZ HGNC NCBI

Linked Data

ClinVar Variation Id: 41020

ClinVar RCV Id: RCV000033917 RCV000657923 RCV000789425 RCV001208935

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000521.2:p.Val113Phe	CA343905 NM_000530.7:c.337G>T