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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:
PA353583
Gene: GNB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224714
ClinVar RCV Id:
RCV000210269
RCV000225134
RCV000523590
RCV000755053
RCV001249296
RCV001266591
RCV002287394
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002065.1:p.Lys78Arg
CA353582
NM_002074.5:c.233A>G