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: PA2580288693

Gene: EFTUD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2110842

ClinVar RCV Id: RCV003045716

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004238.3:p.Ser364Asn	CA290991988 NM_004247.4:c.1091G>A