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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:
CA2599443672
Gene:
Linked Data
dbSNP Id:
rs2142253236
gnomAD v3:
14-103551614-AC-A
gnomAD v4:
14-103551614-AC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.103551615del , CM000676.2:g.103551615del
GRCh38
NC_000014.8:g.104017952del , CM000676.1:g.104017952del
GRCh37
NC_000014.7:g.103087705del
NCBI36
Search 100 bp 5'
Search 100 bp 3'