ClinGen Allele Registry
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Canonical Allele Identifier:
PA645479648
Gene: MYOZ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426256
ClinVar RCV Id:
RCV000490177
RCV000545242
RCV001170133
RCV002395187
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057683.1:p.His49Arg
CA3058550
NM_016599.5:c.146A>G