ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828287449
Gene: MYO3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
299646
ClinVar RCV Id:
RCV000284109
RCV000922737
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355194.1:p.Asp204Asn
CA5444383
NM_001368265.1:c.610G>A