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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:
PA261199
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
39651
ClinVar RCV Id:
RCV000032855
RCV000228082
RCV000523858
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Ile374Thr
CA261198
NM_001369.3:c.1121T>C