ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828319562
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_001356294.1:p.Arg233His
CA6197225
NM_001369365.1:c.698G>A