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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:
CA1087254540
Gene:
Linked Data
dbSNP Id:
rs1764633211
gnomAD v3:
6-28808457-G-GTTTGTTCC
gnomAD v4:
6-28808457-G-GTTTGTTCC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.28808463_28808464insCCTTTGTT , CM000668.2:g.28808463_28808464insCCTTTGTT
GRCh38
NC_000006.11:g.28776240_28776241insCCTTTGTT , CM000668.1:g.28776240_28776241insCCTTTGTT
GRCh37
NC_000006.10:g.28884219_28884220insCCTTTGTT
NCBI36
Search 100 bp 5'
Search 100 bp 3'