ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825763006
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000310622
RCV000803161
RCV001833347
RCV003463758
ClinVar Variation:
285200
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124455.1:p.Pro1025Leu
CA1706435
NM_001130983.2:c.3074C>T