ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825769281
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281014
ClinVar RCV Id:
RCV000274204
RCV000710126
RCV001084090
RCV001329088
RCV003920032
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124458.1:p.Met613Thr
CA1705983
NM_001130986.2:c.1838T>C