ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA222206
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94353
ClinVar RCV Id:
RCV000308010
RCV000407709
RCV000543402
RCV000725370
RCV001276874
RCV001449586
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Ile2047Val
CA222205
NM_003494.4:c.6139A>G