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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:
CA2366476690
Gene:
Linked Data
dbSNP Id:
rs2084244445
gnomAD v3:
20-46007160-GGC-G
gnomAD v4:
20-46007160-GGC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.46007161_46007162del , CM000682.2:g.46007161_46007162del
GRCh38
NC_000020.10:g.44635800_44635801del , CM000682.1:g.44635800_44635801del
GRCh37
NC_000020.9:g.44069207_44069208del
NCBI36
NG_011468.1:g.3254_3255del
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