Allele Registry

Canonical Allele Identifier: PA2826029263

Gene: MUSK HGNC NCBI

ClinVar RCV:

RCV000653233

RCV000999201

RCV001169415

ClinVar Variation:

542749

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159752.1:p.Glu649Lys	CA5184582 NM_001166280.2:c.1945G>A