ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825758705
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000292466
RCV000328757
RCV000487642
RCV001085988
RCV001563948
RCV001563949
RCV001563950
RCV003416078
ClinVar Variation:
195598
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124453.1:p.Lys673Glu
CA242074
NM_001130981.2:c.2017A>G