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: PA295683

Gene: LAMA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 178049

ClinVar RCV Id: RCV000154734 RCV000767119 RCV001087342 RCV002345501 RCV003945218

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002281.3:p.Arg1775Cys	CA295682 NM_002290.4:c.5323C>T