ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825769735
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000592866
RCV001563740
RCV001563741
RCV001563742
RCV001854033
ClinVar Variation:
499041
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124458.1:p.Arg1028His
CA1706455
NM_001130986.2:c.3083G>A