ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825768382
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283243
ClinVar RCV Id:
RCV000595427
RCV000725239
RCV003463747
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124457.1:p.Cys1833Phe
CA10604436
NM_001130985.2:c.5498G>T