ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825755019
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001203031
RCV001828630
RCV003145373
ClinVar Variation:
934608
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124451.1:p.Pro1431His
CA49779936
NM_001130979.2:c.4292C>A