ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825766567
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501816
ClinVar RCV Id:
RCV000593695
RCV000818446
RCV001276719
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124457.1:p.Glu189Lys
CA1705382
NM_001130985.2:c.565G>A