ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826029449
Gene: MUSK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159753.1:p.Ser165Phe
CA374666039
NM_001166281.2:c.494C>T