ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828328763
Gene: MUSK
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000524008
RCV001858023
ClinVar Variation:
452225
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356327.1:p.Tyr383Cys
CA198363795
NM_001369398.1:c.1148A>G