ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825770602
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283243
ClinVar RCV Id:
RCV000595427
RCV000725239
RCV003463747
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124458.1:p.Cys1802Phe
CA10604436
NM_001130986.2:c.5405G>T