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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:
CA1123444640
Gene:
Linked Data
dbSNP Id:
rs1554690729
gnomAD v3:
9-38750582-T-TATACATATATACACATATATGTATATACATATATACAC
gnomAD v4:
9-38750582-T-TATACATATATACACATATATGTATATACATATATACAC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.38750585_38750586insCATATATACACATATATGTATATACATATATACACATA , CM000671.2:g.38750585_38750586insCATATATACACATATATGTATATACATATATACACATA
GRCh38
NC_000009.11:g.38750582_38750583insCATATATACACATATATGTATATACATATATACACATA , CM000671.1:g.38750582_38750583insCATATATACACATATATGTATATACATATATACACATA
GRCh37
NC_000009.10:g.38740582_38740583insCATATATACACATATATGTATATACATATATACACATA
NCBI36
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