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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:
CA721497575
Gene: CASC16
HGNC
NCBI
Linked Data
dbSNP Id:
rs529601255
MyVariant Identifiers:
chr16:g.52586139_52586140del (hg19)
chr16:g.52552227_52552228del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.52552233_52552234del , CM000678.2:g.52552233_52552234del
GRCh38
NC_000016.9:g.52586145_52586146del , CM000678.1:g.52586145_52586146del
GRCh37
NC_000016.8:g.51143646_51143647del
NCBI36
NG_012623.1:g.575_576del
Transcript Alleles
HGVS
Amino-acid change
NR_033920.1:n.860_861del
Search 100 bp 5'
Search 100 bp 3'