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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:
CA2492005214
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.17844072_17844076delinsCAAGT , CM000664.2:g.17844072_17844076delinsCAAGT
GRCh38
NC_000002.11:g.18025339_18025343delinsCAAGT , CM000664.1:g.18025339_18025343delinsCAAGT
GRCh37
NC_000002.10:g.17888820_17888824delinsCAAGT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_939764.2:n.447+3618_447+3622delinsACTTG
Search 100 bp 5'
Search 100 bp 3'