Allele Registry

Canonical Allele Identifier: PA658672915

Gene: MUSK HGNC NCBI

ClinVar RCV:

RCV000530016

RCV002526728

ClinVar Variation:

476141

HGVS (amino-acid)	Matching Registered Transcripts
NP_005583.1:p.Val815Leu	CA5184629 NM_005592.4:c.2443G>T CA5184630 NM_005592.4:c.2443G>C