ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828285727
Gene: MYO6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1254038
ClinVar RCV Id:
RCV001665182
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355067.1:p.Arg1144Cys
CA3897749
NM_001368138.1:c.3430C>T