ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825768138
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000080297
RCV000548178
RCV001271548
RCV002222381
RCV003121082
RCV003466986
RCV004549503
ClinVar Variation:
94331
2418333
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124457.1:p.Lys1616Asn
CA222176
NM_001130985.2:c.4848G>T
CA1707167
NM_001130985.2:c.4848G>C