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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:
CA2492005170
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.17843962_17843976delinsCCACAGGGCAAGCCA , CM000664.2:g.17843962_17843976delinsCCACAGGGCAAGCCA
GRCh38
NC_000002.11:g.18025229_18025243delinsCCACAGGGCAAGCCA , CM000664.1:g.18025229_18025243delinsCCACAGGGCAAGCCA
GRCh37
NC_000002.10:g.17888710_17888724delinsCCACAGGGCAAGCCA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_939764.2:n.447+3718_447+3732delinsTGGCTTGCCCTGTGG
Search 100 bp 5'
Search 100 bp 3'