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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:
PA356163
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220045
ClinVar RCV Id:
RCV000206301
RCV000242149
RCV000667117
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Arg30Trp
CA350348
NM_001369.3:c.88C>T