ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253919
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000007069
RCV000594920
RCV003159090
ClinVar Variation:
6682
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124450.1:p.Gly299Trp
CA253918
NM_001130978.2:c.895G>T