Canonical Allele Identifier: PA237432
Gene: MYOZ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 45783
ClinVar RCV Id: RCV000039008 RCV000172065 RCV001339474 RCV002490531
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_057683.1:p.Gln149His
CA237430
NM_016599.5:c.447A>T
CA358204221
NM_016599.5:c.447A>C