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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:
PA645377149
Gene: DNAH11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
359621
ClinVar RCV Id:
RCV000339106
RCV001257433
RCV002464189
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264044.1:p.Leu1157Arg
CA4179649
NM_001277115.2:c.3470T>G