ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915980713
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43133
ClinVar RCV Id:
RCV000036037
RCV000666645
RCV001268216
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Leu366Pro
CA278619
NM_001127180.2:c.1097T>C