ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828320807
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
177723
ClinVar RCV Id:
RCV000154330
RCV001850112
RCV001826829
RCV003479023
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Glu1316Lys
CA180657
NM_001369365.1:c.3946G>A