ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826029262
Gene: MUSK
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000653229
RCV002532005
RCV003133467
ClinVar Variation:
542745
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159752.1:p.Gly648Ser
CA5184581
NM_001166280.2:c.1942G>A