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: PA645407115

Gene: MPZ HGNC NCBI

Linked Data

ClinVar Variation Id: 424920

ClinVar RCV Id: RCV000488220

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000521.2:p.Asn122Lys	CA16621580 NM_000530.7:c.366T>G CA343349032 NM_000530.7:c.366T>A