ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829466024
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_003485.1:p.Pro233Leu
CA1705463
NM_003494.4:c.698C>T