ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826028975
Gene: MUSK
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000117646
RCV000278210
RCV000536711
ClinVar Variation:
129634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159752.1:p.Thr100Met
CA153743
NM_001166280.2:c.299C>T