ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829469040
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
538646
ClinVar RCV Id:
RCV000648022
RCV001276870
RCV001311193
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Arg1931Cys
CA1707548
NM_003494.4:c.5791C>T