ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825693387
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194354
ClinVar RCV Id:
RCV000174707
RCV000674572
RCV003468855
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123927.1:p.Leu449Pro
CA240279
NM_001130455.2:c.1346T>C