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: PA2826443868

Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 14522

ClinVar RCV Id: RCV000015619 RCV000057331

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001244303.1:p.Ala417Thr	CA017528 NM_001257374.3:c.1249G>A