ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825763150
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000294142
RCV000347373
RCV000727170
RCV001140788
RCV001276443
ClinVar Variation:
336965
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124455.1:p.Val1131Ile
CA1706568
NM_001130983.2:c.3391G>A