ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825764145
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000533199
RCV001755866
RCV001834801
ClinVar Variation:
471324
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124455.1:p.Arg2066Trp
CA1707654
NM_001130983.2:c.6196C>T