Allele Registry

Canonical Allele Identifier: PA2826029728

Gene: MUSK HGNC NCBI

ClinVar RCV:

RCV000653233

RCV000999201

RCV001169415

ClinVar Variation:

542749

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159753.1:p.Glu639Lys	CA5184582 NM_001166281.2:c.1915G>A