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: PA658814917

Gene: LMX1B HGNC NCBI

Linked Data

ClinVar Variation Id: 498798

ClinVar RCV Id: RCV000594256 RCV001281185 RCV001328157 RCV001807647 RCV002476296 RCV003994037 RCV003915707

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002307.2:p.Arg246Gln	CA500006 NM_002316.4:c.737G>A