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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:
CA2697984004
Gene:
Linked Data
dbSNP Id:
rs2102476645
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.200394126del , CM000663.2:g.200394126del
GRCh38
NC_000001.10:g.200363254del , CM000663.1:g.200363254del
GRCh37
NC_000001.9:g.198629877del
NCBI36
Search 100 bp 5'
Search 100 bp 3'