Allele Registry

Canonical Allele Identifier: PA2826029330

Gene: MUSK HGNC NCBI

ClinVar RCV:

RCV000117645

RCV000354244

RCV000559727

ClinVar Variation:

129633

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159752.1:p.Val743Leu	CA153741 NM_001166280.2:c.2227G>T CA198363956 NM_001166280.2:c.2227G>C