ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913196861
Gene: MYO3A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000757544
ClinVar Variation:
618748
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_059129.3:p.Leu52Val
CA376331634
NM_017433.5:c.154C>G