ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828319976
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1982855
ClinVar RCV Id:
RCV002795149
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Pro597Ser
CA381938246
NM_001369365.1:c.1789C>T