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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:
CA1839056697
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.21756014_21756015delinsTC , CM000671.2:g.21756014_21756015delinsTC
GRCh38
NC_000009.11:g.21756013_21756014delinsTC , CM000671.1:g.21756013_21756014delinsTC
GRCh37
NC_000009.10:g.21746013_21746014delinsTC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001746563.2:n.163+11810_163+11811delinsGA
Search 100 bp 5'
Search 100 bp 3'