Allele Registry

Canonical Allele Identifier: PA2826029318

Gene: MUSK HGNC NCBI

ClinVar RCV:

RCV000530016

RCV002526728

ClinVar Variation:

476141

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159752.1:p.Val729Leu	CA5184629 NM_001166280.2:c.2185G>T CA5184630 NM_001166280.2:c.2185G>C