ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826029775
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_001159753.1:p.Tyr707Cys
CA198363795
NM_001166281.2:c.2120A>G