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: PA2499282912

Gene: EFEMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1052829

ClinVar RCV Id: RCV001361087

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_058634.4:p.Val55Asp	CA381310655 NM_016938.5:c.164T>A