Canonical Allele Identifier: PA2828790670
Gene: LARGE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 660773
ClinVar RCV Id: RCV000818043
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365554.1:p.Gln486Arg
CA323711562
NM_001378625.1:c.1457A>G