Allele Registry

Canonical Allele Identifier: PA2828328784

Gene: MUSK HGNC NCBI

ClinVar RCV:

RCV000117645

RCV000354244

RCV000559727

ClinVar Variation:

129633

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356327.1:p.Val409Leu	CA153741 NM_001369398.1:c.1225G>T CA198363956 NM_001369398.1:c.1225G>C