ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915980686
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289999
ClinVar RCV Id:
RCV000395205
RCV000726411
RCV001828270
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Arg244His
CA6197225
NM_001127180.2:c.731G>A