Allele Registry

Canonical Allele Identifier: PA2825625426

Gene: MYO7A HGNC NCBI

ClinVar RCV:

RCV000036163

RCV000132571

RCV000261128

RCV000353260

RCV000677332

RCV001275883

RCV001475655

RCV002721473

ClinVar Variation:

43258

1139067

1964588

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120652.1:p.Leu16Ser	CA132353 NM_001127180.2:c.47T>C CA2499221303 NM_001127180.2:c.47_48delinsCA CA2580084896 NM_001127180.2:c.47_48delinsCT