ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825760468
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000080309
RCV000316737
RCV000373692
RCV000546064
RCV001273966
RCV001795107
ClinVar Variation:
94343
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124454.1:p.Leu221Val
CA147767
NM_001130982.2:c.661C>G