ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825754573
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
652065
ClinVar RCV Id:
RCV000807552
RCV001825604
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124451.1:p.Pro1050Leu
CA1706429
NM_001130979.2:c.3149C>T