ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825756413
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000274204
RCV000710126
RCV001084090
RCV001329088
RCV003920032
ClinVar Variation:
281014
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124452.1:p.Met643Thr
CA1705983
NM_001130980.2:c.1928T>C