ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828328619
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_001356327.1:p.Ile155Thr
CA5184434
NM_001369398.1:c.464T>C