Allele Registry

Canonical Allele Identifier: PA245291

Gene: MUSK HGNC NCBI

ClinVar RCV:

RCV000178247

RCV001088756

RCV001168567

ClinVar Variation:

197258

HGVS (amino-acid)	Matching Registered Transcripts
NP_005583.1:p.Arg162Ser	CA245290 NM_005592.4:c.486G>C CA374665273 NM_005592.4:c.486G>T