Allele Registry

Canonical Allele Identifier: PA2826029795

Gene: MUSK HGNC NCBI

ClinVar RCV:

RCV000117645

RCV000354244

RCV000559727

ClinVar Variation:

129633

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159753.1:p.Val733Leu	CA153741 NM_001166281.2:c.2197G>T CA198363956 NM_001166281.2:c.2197G>C