Canonical Allele Identifier: PA915981194
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 43208
ClinVar RCV Id: RCV000036112 RCV000664470 RCV000763278 RCV001075104 RCV000988609 RCV001291476 RCV001385688 RCV001826545 RCV004541087
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001120652.1:p.Glu1170Lys
CA278649
NM_001127180.2:c.3508G>A