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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.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825695883
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
381677
ClinVar RCV Id:
RCV000424011
RCV000671182
RCV001861509
RCV003470383
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123927.1:p.Pro1971Ser
CA16604254
NM_001130455.2:c.5911C>T