ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA321366
Gene: MYOZ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213655
ClinVar RCV Id:
RCV000196942
RCV000458464
RCV000623809
RCV000625133
RCV002336531
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057683.1:p.Pro160Leu
CA321364
NM_016599.5:c.479C>T