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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:
CA610519410
Gene:
Linked Data
dbSNP Id:
rs1241938134
gnomAD v2:
13-71249547-ATATATATATATTTTATATATATATTT-A
gnomAD v3:
13-70675415-ATATATATATATTTTATATATATATTT-A
gnomAD v4:
13-70675415-ATATATATATATTTTATATATATATTT-A
MyVariant Identifiers:
chr13:g.71249548_71249573del (hg19)
chr13:g.70675416_70675441del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.70675427_70675452del , CM000675.2:g.70675427_70675452del
GRCh38
NC_000013.10:g.71249559_71249584del , CM000675.1:g.71249559_71249584del
GRCh37
NC_000013.9:g.70147560_70147585del
NCBI36
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