ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825763910
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
267480
ClinVar RCV:
RCV000595427
RCV000725239
RCV003463747
ClinVar Variation:
283243
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124455.1:p.Cys1837Phe
CA10604436
NM_001130983.2:c.5510G>T