Allele Registry

Canonical Allele Identifier: PA153742

Gene: MUSK HGNC NCBI

ClinVar RCV:

RCV000117645

RCV000354244

RCV000559727

ClinVar Variation:

129633

HGVS (amino-acid)	Matching Registered Transcripts
NP_005583.1:p.Val829Leu	CA153741 NM_005592.4:c.2485G>T CA198363956 NM_005592.4:c.2485G>C