ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825758345
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94366
ClinVar RCV Id:
RCV000080334
RCV003236666
RCV003460754
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124453.1:p.Ser320Pro
CA222222
NM_001130981.2:c.958T>C