ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828285011
Gene: MYO6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2986681
ClinVar RCV Id:
RCV003846336
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355065.1:p.Pro1142Ser
CA141060202
NM_001368136.1:c.3424C>T