ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826029166
Gene: MUSK
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000170588
RCV000414863
RCV001579456
RCV002515221
ClinVar Variation:
190467
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159752.1:p.Ile489Thr
CA5184434
NM_001166280.2:c.1466T>C