ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825758529
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194354
ClinVar RCV Id:
RCV000174707
RCV000674572
RCV003468855
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124453.1:p.Leu479Pro
CA240279
NM_001130981.2:c.1436T>C