ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573268139
Gene: MYOZ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1477201
ClinVar RCV Id:
RCV002018677
RCV004042336
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057683.1:p.Ala189Val
CA3058683
NM_016599.5:c.566C>T