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: PA340480

Gene: EIF2B5 HGNC NCBI

Linked Data

ClinVar Variation Id: 5949

ClinVar RCV Id: RCV000416181 RCV003221415 RCV003485519

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003898.2:p.Thr182Met	CA340479 NM_003907.3:c.545C>T