ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658806949
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000594913
RCV000797230
ClinVar Variation:
501558
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124459.1:p.Ala1611Thr
CA1707154
NM_001130987.2:c.4831G>A