ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826029282
Gene: MUSK
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000498004
RCV000696818
RCV001329437
ClinVar Variation:
432075
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159752.1:p.Ile678Thr
CA374479077
NM_001166280.2:c.2033T>C