ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826029305
Gene: MUSK
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000304044
RCV000584854
RCV000653236
RCV003147451
ClinVar Variation:
364616
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159752.1:p.Tyr712Cys
CA5184619
NM_001166280.2:c.2135A>G