ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828321362
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
178494
ClinVar RCV Id:
RCV000155242
RCV000477766
RCV001241068
RCV001826836
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Arg1783Gln
CA182436
NM_001369365.1:c.5348G>A