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: PA2828169906

Gene: MEF2A HGNC NCBI

Linked Data

ClinVar Variation Id: 8949

ClinVar RCV Id: RCV000009505

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001352130.1:p.Pro283Leu	CA120015 NM_001365201.3:c.848C>T