ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828290624
Gene: MYO6
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000009111
RCV000767071
RCV000987740
ClinVar Variation:
8580
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355794.1:p.Glu216Val
CA180677
NM_001368865.1:c.647A>T