ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111143
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6671
ClinVar RCV Id:
RCV000007055
RCV000007056
RCV000790785
RCV000807968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Pro791Arg
CA222139
NM_003494.4:c.2372C>G