ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828328697
Gene: MUSK
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000403675
RCV002061309
ClinVar Variation:
364613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356327.1:p.Ala280Thr
CA5184570
NM_001369398.1:c.838G>A