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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:
CA916083221
Gene: HBB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
869254
ClinVar RCV Id:
RCV001078293
dbSNP Id:
rs1847587350
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.5226994_5227525del , CM000673.2:g.5226994_5227525del
GRCh38
NC_000011.9:g.5248224_5248755del , CM000673.1:g.5248224_5248755del
GRCh37
NC_000011.8:g.5204800_5205331del
NCBI36
NG_000007.3:g.70091_70622del
NG_059281.1:g.4547_5078del
Transcript Alleles
HGVS
Amino-acid change
ENST00000380315.2:c.-32_28del
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Search 100 bp 3'