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: PA172478

Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 66952

ClinVar RCV Id: RCV000057481 RCV000146262 RCV001234965 RCV003227631

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_733822.1:p.Asp300Asn	CA018826 NM_170708.4:c.898G>A