ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828328783
Gene: MUSK
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001320961
ClinVar Variation:
1021233
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356327.1:p.Val409Met
CA5184639
NM_001369398.1:c.1225G>A