Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2829466253

Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 2162951

ClinVar RCV Id: RCV003070508 RCV003143482

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Met394Leu	CA16609661 NM_003494.4:c.1180A>C CA347213685 NM_003494.4:c.1180A>T