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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:
PA1139668964
Gene: HBB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
869243
ClinVar RCV Id:
RCV001078278
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.Arg31Gly
CA217115065
NM_000518.5:c.91A>G