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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:
CA1497908255
Gene:
Linked Data
dbSNP Id:
rs1731847391
gnomAD v3:
4-138508884-T-TA
gnomAD v4:
4-138508884-T-TA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.138508888dup , CM000666.2:g.138508888dup
GRCh38
NC_000004.11:g.139430042dup , CM000666.1:g.139430042dup
GRCh37
NC_000004.10:g.139649492dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'