ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573065485
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1185144
ClinVar RCV Id:
RCV001822966
RCV003771670
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Arg649Gln
CA381939108
NM_001127180.2:c.1946G>A