ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825750031
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284003
ClinVar RCV Id:
RCV000313635
RCV000666376
RCV000701610
RCV002494839
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124449.1:p.Pro1006Leu
CA1706432
NM_001130977.2:c.3017C>T