ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828328758
Gene: MUSK
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000304044
RCV000584854
RCV000653236
RCV003147451
ClinVar Variation:
364616
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356327.1:p.Tyr378Cys
CA5184619
NM_001369398.1:c.1133A>G