ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825764583
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000726094
RCV001139795
RCV001833380
RCV003155152
ClinVar Variation:
287943
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124456.1:p.Arg388Trp
CA1705660
NM_001130984.2:c.1162C>T