ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA153744
Gene: MUSK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005583.1:p.Thr100Met
CA153743
NM_005592.4:c.299C>T