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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:
PA353585
Gene: GNB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224716
ClinVar RCV Id:
RCV000210270
RCV000755060
RCV001252684
RCV001290214
RCV001853369
RCV002264671
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002065.1:p.Leu95Pro
CA353584
NM_002074.5:c.284T>C