ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829466489
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
624138
ClinVar RCV Id:
RCV000762271
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Gly545Arg
CA347217527
NM_003494.4:c.1633G>C