ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825756925
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497848
ClinVar RCV Id:
RCV000593694
RCV001276440
RCV001034781
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124452.1:p.Arg1101Cys
CA1706513
NM_001130980.2:c.3301C>T