ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828321425
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43294
ClinVar RCV Id:
RCV000036199
RCV000413954
RCV000844722
RCV000983988
RCV001273516
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Arg1834Gln
CA278689
NM_001369365.1:c.5501G>A