ClinGen Allele Registry
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Canonical Allele Identifier:
PA222177
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000080297
RCV000548178
RCV001271548
RCV002222381
RCV003121082
RCV003466986
RCV004549503
ClinVar Variation:
94331
2418333
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Lys1598Asn
CA222176
NM_003494.4:c.4794G>T
CA1707167
NM_003494.4:c.4794G>C