ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826029593
Gene: MUSK
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000296540
RCV002058765
RCV003129852
ClinVar Variation:
364610
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159753.1:p.Val412Met
CA5184382
NM_001166281.2:c.1234G>A