ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828328669
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_001356327.1:p.Val224Ala
CA5184534
NM_001369398.1:c.671T>C