ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645386178
Gene: MUSK
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000281406
RCV001512370
ClinVar Variation:
364607
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005583.1:p.Thr417Ile
CA5184311
NM_005592.4:c.1250C>T