ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828320611
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
179479
ClinVar RCV Id:
RCV000156269
RCV000623408
RCV000675162
RCV001004779
RCV001091732
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Arg1157Gln
CA184505
NM_001369365.1:c.3470G>A