ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829468878
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284471
ClinVar RCV Id:
RCV000265900
RCV001859602
RCV003401247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Val1840Met
CA10604806
NM_003494.4:c.5518G>A