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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:
CA1071071462
Gene:
Linked Data
dbSNP Id:
rs1734364895
gnomAD v3:
4-173653139-G-GTCC
gnomAD v4:
4-173653139-G-GTCC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.173653144_173653146dup , CM000666.2:g.173653144_173653146dup
GRCh38
NC_000004.11:g.174574295_174574297dup , CM000666.1:g.174574295_174574297dup
GRCh37
NC_000004.10:g.174810870_174810872dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'