ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825759572
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_001124453.1:p.Arg1431Trp
CA1706959
NM_001130981.2:c.4291C>T