ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829468108
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285356
ClinVar RCV Id:
RCV000530924
RCV000664797
RCV000725642
RCV003235177
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Tyr1494His
CA1707060
NM_003494.4:c.4480T>C