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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:
CA2676032994
Gene:
Linked Data
gnomAD v4:
5-151020398-CCTGACTTCCACCTCTCTGCCCAGATTTGCTTATGTCACTGTCGCCCCGGGACGGGGAGGTGGGGAG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.151020403_151020468del , CM000667.2:g.151020403_151020468del
GRCh38
NC_000005.9:g.150399964_150400029del , CM000667.1:g.150399964_150400029del
GRCh37
NC_000005.8:g.150380157_150380222del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_944410.1:n.20_85del
Search 100 bp 5'
Search 100 bp 3'