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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:
CA1087614502
Gene:
Linked Data
dbSNP Id:
rs1782641471
gnomAD v3:
6-32658575-GC-G
gnomAD v4:
6-32658575-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32658578del , CM000668.2:g.32658578del
GRCh38
NC_000006.11:g.32626355del , CM000668.1:g.32626355del
GRCh37
NC_000006.10:g.32734333del
NCBI36
Search 100 bp 5'
Search 100 bp 3'