ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253923
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
18443
ClinVar RCV Id:
RCV000007073
RCV000723469
RCV001215439
RCV002476993
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Arg1810Lys
CA253922
NM_003494.4:c.5429G>A