ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828285020
Gene: MYO6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1310791
ClinVar RCV Id:
RCV001767905
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355065.1:p.His1164Asp
CA364762042
NM_001368136.1:c.3490C>G