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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:
CA823082721
Gene: CASC15
HGNC
NCBI
Linked Data
dbSNP Id:
rs1313000722
MyVariant Identifiers:
chr6:g.22131751del (hg19)
chr6:g.22131522del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.22131523del , CM000668.2:g.22131523del
GRCh38
NC_000006.11:g.22131752del , CM000668.1:g.22131752del
GRCh37
NC_000006.10:g.22239731del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_015410.1:n.1391+20603del
NR_015410.2:n.1422+20603del
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