ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828321053
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
504648
ClinVar RCV Id:
RCV000602682
RCV001834919
RCV002532729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Glu1530Lys
CA6198533
NM_001369365.1:c.4588G>A