ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828328716
Gene: MUSK
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000653233
RCV000999201
RCV001169415
ClinVar Variation:
542749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356327.1:p.Glu315Lys
CA5184582
NM_001369398.1:c.943G>A