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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:
CA692441243
Gene: ZNF705A
HGNC
NCBI
Linked Data
dbSNP Id:
rs1242340122
MyVariant Identifiers:
chr12:g.8291261del (hg19)
chr12:g.8138665del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.8138665del , CM000674.2:g.8138665del
GRCh38
NC_000012.11:g.8291261del , CM000674.1:g.8291261del
GRCh37
NC_000012.10:g.8182528del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000402465.8:c.114+412del
ENST00000402465.7:c.-151+412del
ENSP00000384896.3:n.-151+412del
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