ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828291213
Gene: MYO6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
228996
ClinVar RCV Id:
RCV000218835
RCV001753647
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355795.1:p.Arg1204Trp
CA10576709
NM_001368866.1:c.3610C>T