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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:
CA610744002
Gene:
Linked Data
dbSNP Id:
rs111582494
gnomAD v2:
13-66211954-T-TAA
gnomAD v3:
13-65637822-T-TAA
gnomAD v4:
13-65637822-T-TAA
MyVariant Identifiers:
chr13:g.66211956_66211957insAA (hg19)
chr13:g.66211954_66211955insAA (hg19)
chr13:g.65637824_65637825insAA (hg38)
chr13:g.65637822_65637823insAA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.65637835_65637836dup , CM000675.2:g.65637835_65637836dup
GRCh38
NC_000013.10:g.66211967_66211968dup , CM000675.1:g.66211967_66211968dup
GRCh37
NC_000013.9:g.65109968_65109969dup
NCBI36
Search 100 bp 5'
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