ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825770163
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000596365
RCV001370590
RCV001829658
ClinVar Variation:
500018
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124458.1:p.Arg1401Trp
CA1706959
NM_001130986.2:c.4201C>T