ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828320055
Gene: MYO7A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
546425
ClinVar RCV:
RCV000672944
RCV000988605
RCV001171540
RCV001309116
RCV001830456
ClinVar Variation:
556881
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Arg655Gln
CA6197659
NM_001369365.1:c.1964G>A