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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:
CA594277757
Gene:
Linked Data
dbSNP Id:
rs1480855790
gnomAD v2:
10-72527314-GCCACAGAGTGGAACATGTCTCAAA-G
gnomAD v3:
10-70767558-GCCACAGAGTGGAACATGTCTCAAA-G
gnomAD v4:
10-70767558-GCCACAGAGTGGAACATGTCTCAAA-G
MyVariant Identifiers:
chr10:g.72527315_72527338del (hg19)
chr10:g.70767559_70767582del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.70767559_70767582del , CM000672.2:g.70767559_70767582del
GRCh38
NC_000010.10:g.72527315_72527338del , CM000672.1:g.72527315_72527338del
GRCh37
NC_000010.9:g.72197321_72197344del
NCBI36
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