ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499238961
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1201598
ClinVar RCV Id:
RCV001567007
RCV001832773
RCV002568441
RCV004039348
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124459.1:p.Pro126Leu
CA1705340
NM_001130987.2:c.377C>T