ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828287433
Gene: MYO3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
504639
ClinVar RCV Id:
RCV000613968
RCV000898120
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355194.1:p.His142Tyr
CA5444304
NM_001368265.1:c.424C>T