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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:
PA2826600212
Gene: DNM1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
388124
ClinVar RCV Id:
RCV000439994
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265394.1:p.Gly32Ala
CA16606518
NM_001278465.2:c.95G>C