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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:
CA1072487616
Gene:
Linked Data
dbSNP Id:
rs1747294067
gnomAD v3:
5-1249556-TCGG-T
gnomAD v4:
5-1249556-TCGG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1249557_1249559del , CM000667.2:g.1249557_1249559del
GRCh38
NC_000005.9:g.1249672_1249674del , CM000667.1:g.1249672_1249674del
GRCh37
NC_000005.8:g.1302672_1302674del
NCBI36
Search 100 bp 5'
Search 100 bp 3'