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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:
CA1554040918
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.70049504_70049506delinsGAA , CM000667.2:g.70049504_70049506delinsGAA
GRCh38
NC_000005.9:g.69345331_69345333delinsGAA , CM000667.1:g.69345331_69345333delinsGAA
GRCh37
NC_000005.8:g.69381087_69381089delinsGAA
NCBI36
NG_008728.1:g.4982_4984delinsGAA
Transcript Alleles
HGVS
Amino-acid Change
XR_948432.1:n.1054+61500_1054+61502delinsGAA
Search 100 bp 5'
Search 100 bp 3'