Allele Registry

Canonical Allele Identifier: PA276994

Gene: MUSK HGNC NCBI

ClinVar RCV:

RCV000192613

RCV000526130

RCV003343688

ClinVar Variation:

211541

HGVS (amino-acid)	Matching Registered Transcripts
NP_005583.1:p.Arg125Leu	CA276993 NM_005592.4:c.374G>T