ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825749381
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000726094
RCV001139795
RCV001833380
RCV003155152
ClinVar Variation:
287943
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124449.1:p.Arg387Trp
CA1705660
NM_001130977.2:c.1159C>T