Allele Registry

Canonical Allele Identifier: PA2826028989

Gene: MUSK HGNC NCBI

ClinVar RCV:

RCV000192613

RCV000526130

RCV003343688

ClinVar Variation:

211541

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159752.1:p.Arg125Leu	CA276993 NM_001166280.2:c.374G>T