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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:
CA1139196806
Gene:
Linked Data
dbSNP Id:
rs2079983167
gnomAD v3:
Y-14289446-TTCTA-T
gnomAD v4:
Y-14289446-TTCTA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.14289450_14289453del , CM000686.2:g.14289450_14289453del
GRCh38
NC_000024.9:g.16401330_16401333del , CM000686.1:g.16401330_16401333del
GRCh37
NC_000024.8:g.14910724_14910727del
NCBI36
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