ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828287423
Gene: MYO3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2611329
ClinVar RCV Id:
RCV003367119
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355194.1:p.Tyr85Cys
CA376331866
NM_001368265.1:c.254A>G