ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828320708
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43218
ClinVar RCV Id:
RCV000036122
RCV000256123
RCV000504703
RCV000623302
RCV000763279
RCV000984006
RCV001075882
RCV001272514
RCV004528176
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Arg1229Gln
CA278657
NM_001369365.1:c.3686G>A