ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826029765
Gene: MUSK
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000008722
RCV000520620
RCV000701593
RCV001329438
RCV003492289
ClinVar Variation:
8239
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159753.1:p.Val694Met
CA249734
NM_001166281.2:c.2080G>A