ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645386203
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_005583.1:p.Val508Met
CA5184382
NM_005592.4:c.1522G>A