ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829466484
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000648014
RCV001829805
RCV003243237
ClinVar Variation:
538642
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Glu541Gly
CA1705883
NM_003494.4:c.1622A>G