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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
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Canonical Allele Identifier:
CA2273435996
Gene: CASC17
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.71129496_71129515delinsTATCTAAATAAGTGGCTTAC , CM000679.2:g.71129496_71129515delinsTATCTAAATAAGTGGCTTAC
GRCh38
NC_000017.10:g.69125637_69125656delinsTATCTAAATAAGTGGCTTAC , CM000679.1:g.69125637_69125656delinsTATCTAAATAAGTGGCTTAC
GRCh37
NC_000017.9:g.66637232_66637251delinsTATCTAAATAAGTGGCTTAC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_104152.1:n.217+2875_217+2894delinsGTAAGCCACTTATTTAGATA
Search 100 bp 5'
Search 100 bp 3'