ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826029217
Gene: MUSK
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000244965
RCV000306389
RCV000513674
RCV001081301
ClinVar Variation:
259805
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159752.1:p.Val558Ala
CA5184534
NM_001166280.2:c.1673T>C