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: PA2828287194

Gene: LARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 203990

ClinVar RCV Id: RCV000203257 RCV003556221

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001355192.1:p.Thr300Met	CA278778 NM_001368263.1:c.899C>T