ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828328753
Gene: MUSK
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000008722
RCV000520620
RCV000701593
RCV001329438
RCV003492289
ClinVar Variation:
8239
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356327.1:p.Val370Met
CA249734
NM_001369398.1:c.1108G>A