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: PA100584

Gene: EFEMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 5423

ClinVar RCV Id: RCV000005756 RCV000032268

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_058634.4:p.Glu57Lys	CA281558 NM_016938.5:c.169G>A