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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:
CA144309883
Gene:
Linked Data
dbSNP Id:
rs906637646
gnomAD v2:
6-98462468-AT-A
gnomAD v3:
6-98014592-AT-A
gnomAD v4:
6-98014592-AT-A
MyVariant Identifiers:
chr6:g.98462469del (hg19)
chr6:g.98014593del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.98014595del , CM000668.2:g.98014595del
GRCh38
NC_000006.11:g.98462471del , CM000668.1:g.98462471del
GRCh37
NC_000006.10:g.98569192del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_245563.2:n.371+45129del
XR_942809.1:n.371+45129del
Search 100 bp 5'
Search 100 bp 3'