ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828328752
Gene: MUSK
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000415334
RCV001198407
RCV003129855
ClinVar Variation:
374195
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356327.1:p.Gly369Ser
CA16043436
NM_001369398.1:c.1105G>A