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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:
PA645501733
Gene: DNM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374264
ClinVar RCV Id:
RCV000415220
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005336.1:p.Gln155_Ile156insMet
CA16043669
NM_001005336.3:c.465_467dup