ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825757427
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94327
ClinVar RCV Id:
RCV000193503
RCV000560015
RCV001271544
RCV001719835
RCV003398673
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124452.1:p.Lys1543Thr
CA207041
NM_001130980.2:c.4628A>C