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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:
PA2499254806
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1036006
ClinVar RCV Id:
RCV001338950
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Arg3547Gly
CA3202166
NM_001369.3:c.10639C>G