ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829466535
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000306031
RCV000403176
RCV000665544
RCV000727415
RCV001080579
ClinVar Variation:
336956
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Arg582Leu
CA1705931
NM_003494.4:c.1745G>T