ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825751830
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
336955
ClinVar RCV Id:
RCV000309668
RCV000345690
RCV001066203
RCV003144229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124450.1:p.Ala577Val
CA1705924
NM_001130978.2:c.1730C>T