ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA111027
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285123
ClinVar RCV Id:
RCV000725593
RCV001081328
RCV001272833
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Ile1208Met
CA1706663
NM_003494.4:c.3624C>G