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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:
CA1008419149
Gene:
Linked Data
dbSNP Id:
rs1676804355
gnomAD v3:
1-161530340-A-ACG
gnomAD v4:
1-161530340-A-ACG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.161530340_161530341insCG , CM000663.2:g.161530340_161530341insCG
GRCh38
NC_000001.10:g.161500130_161500131insCG , CM000663.1:g.161500130_161500131insCG
GRCh37
NC_000001.9:g.159766754_159766755insCG
NCBI36
Search 100 bp 5'
Search 100 bp 3'