ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828321415
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43292
ClinVar RCV Id:
RCV000036197
RCV000594226
RCV000672711
RCV001089676
RCV002504884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Arg1824Gln
CA278687
NM_001369365.1:c.5471G>A