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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:
CA1615377262
Gene: CASC15
HGNC
NCBI
Linked Data
dbSNP Id:
rs1761974368
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.22131816del , CM000668.2:g.22131816del
GRCh38
NC_000006.11:g.22132045del , CM000668.1:g.22132045del
GRCh37
NC_000006.10:g.22240024del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_015410.1:n.1391+20896del
NR_015410.2:n.1422+20896del
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