ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828319703
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43136
ClinVar RCV Id:
RCV000036040
RCV000668099
RCV001762113
RCV001831625
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Arg367His
CA132198
NM_001369365.1:c.1100G>A