ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825751641
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
287943
ClinVar RCV Id:
RCV000726094
RCV001139795
RCV003155152
RCV001833380
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124450.1:p.Arg387Trp
CA1705660
NM_001130978.2:c.1159C>T