ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828320741
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
178283
ClinVar RCV Id:
RCV000155024
RCV000675121
RCV001171535
RCV001850120
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Ser1265Leu
CA278732
NM_001369365.1:c.3794C>T