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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:
CA569191044
Gene:
Linked Data
dbSNP Id:
rs1212466510
gnomAD v2:
6-98550335-T-TA
gnomAD v3:
6-98102459-T-TA
gnomAD v4:
6-98102459-T-TA
MyVariant Identifiers:
chr6:g.98550335_98550336insA (hg19)
chr6:g.98102459_98102460insA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.98102459_98102460insA , CM000668.2:g.98102459_98102460insA
GRCh38
NC_000006.11:g.98550335_98550336insA , CM000668.1:g.98550335_98550336insA
GRCh37
NC_000006.10:g.98657056_98657057insA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_245563.2:n.456+3189_456+3190insA
XR_942809.1:n.456+3189_456+3190insA
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