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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:
CA2507117590
Gene: CASC17
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.71129379_71129380insCAGTGTTTATTA , CM000679.2:g.71129379_71129380insCAGTGTTTATTA
GRCh38
NC_000017.10:g.69125520_69125521insCAGTGTTTATTA , CM000679.1:g.69125520_69125521insCAGTGTTTATTA
GRCh37
NC_000017.9:g.66637115_66637116insCAGTGTTTATTA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_104152.1:n.217+3010_217+3011insTAATAAACACTG
Search 100 bp 5'
Search 100 bp 3'