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: PA916021000

Gene: EARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 392792

ClinVar RCV Id: RCV000441862

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001295140.1:p.Val234Leu	CA16606985 NM_001308211.1:c.700G>C CA395133926 NM_001308211.1:c.700G>T