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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:
CA2695213085
Gene: HBB
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.5227134_5227258del , CM000673.2:g.5227134_5227258del
GRCh38
NC_000011.9:g.5248364_5248488del , CM000673.1:g.5248364_5248488del
GRCh37
NC_000011.8:g.5204940_5205064del
NCBI36
NG_000007.3:g.70362_70486del
NG_059281.1:g.4818_4942del
Transcript Alleles
HGVS
Amino-acid change
ENST00000380315.2:c.-18-215_-18-91del
ENSP00000369671.2:n.-18-215_-18-91del
Search 100 bp 5'
Search 100 bp 3'