ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825768889
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500004
ClinVar RCV Id:
RCV000598072
RCV000792953
RCV001535517
RCV003403397
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124458.1:p.Pro234Leu
CA1705463
NM_001130986.2:c.701C>T