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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:
CA2580084012
Gene: HBB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2044665
ClinVar RCV Id:
RCV002903856
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.5226791_5226832del , CM000673.2:g.5226791_5226832del
GRCh38
NC_000011.9:g.5248021_5248062del , CM000673.1:g.5248021_5248062del
GRCh37
NC_000011.8:g.5204597_5204638del
NCBI36
NG_000007.3:g.70784_70825del
NG_059281.1:g.5240_5281del
Transcript Alleles
HGVS
Amino-acid change
ENST00000647020.1:c.93-33_101del
ENST00000335295.4:c.93-33_101del
ENST00000380315.2:c.93-33_101del
ENST00000485743.1:n.144-33_152del
ENST00000633227.1:c.77-33_85del
NM_000518.4:c.93-33_101del
NM_000518.5:c.93-33_101del
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