ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA254506
Gene: MYO6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_004990.3:p.Arg1166Ter
NM_004999.4:c.3496C>T