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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:
CA923759658
Gene:
Linked Data
dbSNP Id:
rs2089280119
gnomAD v3:
Y-20455529-CTACCATTAGGAGATATACCTAATGTAAATGAAGAGTTAATGGGTGCAGCACACCAACATGATGCCTGTATACATATGTAACAAACCTGCACATGGGCACATGT-C
gnomAD v4:
Y-20455529-CTACCATTAGGAGATATACCTAATGTAAATGAAGAGTTAATGGGTGCAGCACACCAACATGATGCCTGTATACATATGTAACAAACCTGCACATGGGCACATGT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.20455530_20455632del , CM000686.2:g.20455530_20455632del
GRCh38
NC_000024.9:g.22617416_22617518del , CM000686.1:g.22617416_22617518del
GRCh37
NC_000024.8:g.21026804_21026906del
NCBI36
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