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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:
PA2825768706
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284469
ClinVar RCV Id:
RCV000596973
RCV000725459
RCV003736685
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124458.1:p.Val70Gly
CA10604804
NM_001130986.2:c.209T>G