ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829467904
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500018
ClinVar RCV Id:
RCV000596365
RCV001370590
RCV001829658
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Arg1414Trp
CA1706959
NM_003494.4:c.4240C>T