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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:
CA627484935
Gene: CASC17
HGNC
NCBI
Linked Data
dbSNP Id:
rs1302517598
gnomAD v2:
17-69125637-TATCTAAATAAGTGGCTTAC-T
gnomAD v3:
17-71129496-TATCTAAATAAGTGGCTTAC-T
gnomAD v4:
17-71129496-TATCTAAATAAGTGGCTTAC-T
MyVariant Identifiers:
chr17:g.69125638_69125656del (hg19)
chr17:g.71129497_71129515del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.71129501_71129519del , CM000679.2:g.71129501_71129519del
GRCh38
NC_000017.10:g.69125642_69125660del , CM000679.1:g.69125642_69125660del
GRCh37
NC_000017.9:g.66637237_66637255del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_104152.1:n.217+2875_217+2893del
Search 100 bp 5'
Search 100 bp 3'