ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915980647
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
551019
ClinVar RCV Id:
RCV000665969
RCV001855449
RCV003989576
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Arg206Cys
CA6197203
NM_001127180.2:c.616C>T