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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:
PA125077
Gene: HBB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
15295
ClinVar RCV Id:
RCV000016528
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.Leu49Arg
CA125076
NM_000518.5:c.146T>G