ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA222171
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94324
ClinVar RCV Id:
RCV000080290
RCV001854416
RCV003460752
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Lys1480Thr
CA222170
NM_003494.4:c.4439A>C