ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA222165
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94321
ClinVar RCV Id:
RCV000080287
RCV000177998
RCV000536105
RCV003460751
RCV003993797
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Gly1418Asp
CA222164
NM_003494.4:c.4253G>A