ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645479658
Gene: MYOZ2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057683.1:p.Arg115Gln
CA3058601
NM_016599.5:c.344G>A