ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825115501
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_000251.3:p.Pro608Ser
CA381938246
NM_000260.4:c.1822C>T