ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828290613
Gene: MYO6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
397508
ClinVar RCV Id:
RCV000449594
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355794.1:p.Val183Asp
CA16609392
NM_001368865.1:c.548T>A