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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:
PA125784
Gene: HBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
15759
ClinVar RCV Id:
RCV000017070
RCV001811177
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000549.1:p.Lys91Thr
CA125783
NM_000558.5:c.272A>C