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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:
CA1317132829
Gene:
Linked Data
dbSNP Id:
rs1688968491
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.192877506_192877517del , CM000664.2:g.192877506_192877517del
GRCh38
NC_000002.11:g.193742232_193742243del , CM000664.1:g.193742232_193742243del
GRCh37
NC_000002.10:g.193450477_193450488del
NCBI36
Search 100 bp 5'
Search 100 bp 3'