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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:
CA2633203127
Gene: CASC16
HGNC
NCBI
Linked Data
gnomAD v4:
16-52552483-C-CCAG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.52552484_52552485insAGC , CM000678.2:g.52552484_52552485insAGC
GRCh38
NC_000016.9:g.52586396_52586397insAGC , CM000678.1:g.52586396_52586397insAGC
GRCh37
NC_000016.8:g.51143897_51143898insAGC
NCBI36
NG_012623.1:g.319_320insCTG
Transcript Alleles
HGVS
Amino-acid Change
NR_033920.1:n.654-50_654-49insCTG
Search 100 bp 5'
Search 100 bp 3'