ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825755519
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471318
ClinVar RCV Id:
RCV000534201
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124451.1:p.Asp1886Val
CA347223572
NM_001130979.2:c.5657A>T