ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826029128
Gene: MUSK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159752.1:p.Val422Met
CA5184382
NM_001166280.2:c.1264G>A