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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:
CA2330336240
Gene:
Linked Data
dbSNP Id:
rs2011164395
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.28544580del , CM000681.2:g.28544580del
GRCh38
NC_000019.9:g.29035487del , CM000681.1:g.29035487del
GRCh37
NC_000019.8:g.33727327del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_110759.1:n.657-77800del
XR_243979.1:n.110-51557del
Search 100 bp 5'
Search 100 bp 3'