ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139700739
Gene: MUSK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005583.1:p.Ala621Val
CA5184490
NM_005592.4:c.1862C>T