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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:
CA726616177
Gene:
Linked Data
dbSNP Id:
rs1475055857
gnomAD v3:
17-1777904-CAT-C
gnomAD v4:
17-1777904-CAT-C
MyVariant Identifiers:
chr17:g.1681199_1681200del (hg19)
chr17:g.1777905_1777906del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.1777907_1777908del , CM000679.2:g.1777907_1777908del
GRCh38
NC_000017.10:g.1681201_1681202del , CM000679.1:g.1681201_1681202del
GRCh37
NC_000017.9:g.1627951_1627952del
NCBI36
NG_028180.1:g.20943_20944del
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