ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828287412
Gene: MYO3A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000757544
ClinVar Variation:
618748
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355194.1:p.Leu52Val
CA376331634
NM_001368265.1:c.154C>G