ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139683493
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
864337
ClinVar RCV Id:
RCV001071496
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124454.1:p.Phe1412Ser
CA347228816
NM_001130982.2:c.4235T>C