ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825770236
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000080290
RCV001854416
RCV003460752
ClinVar Variation:
94324
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124458.1:p.Lys1467Thr
CA222170
NM_001130986.2:c.4400A>C