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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:
CA484080346
Gene:
Linked Data
dbSNP Id:
rs1194897438
gnomAD v2:
13-71249545-ATATATATATATATTT-A
gnomAD v3:
13-70675413-ATATATATATATATTT-A
gnomAD v4:
13-70675413-ATATATATATATATTT-A
MyVariant Identifiers:
chr13:g.71249546_71249560del (hg19)
chr13:g.70675414_70675428del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.70675425_70675439del , CM000675.2:g.70675425_70675439del
GRCh38
NC_000013.10:g.71249557_71249571del , CM000675.1:g.71249557_71249571del
GRCh37
NC_000013.9:g.70147558_70147572del
NCBI36
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