ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828319739
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
178667
ClinVar RCV Id:
RCV000155424
RCV000594093
RCV000675112
RCV001089675
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Tyr392Cys
CA278736
NM_001369365.1:c.1175A>G