ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828319725
Gene: MYO7A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
546404
ClinVar RCV:
RCV000670895
RCV001067075
RCV001261013
RCV001291468
RCV001829868
RCV002485553
ClinVar Variation:
555138
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Arg384Cys
CA6197402
NM_001369365.1:c.1150C>T