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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:
CA2014883874
Gene: ZNF705A
HGNC
NCBI
Linked Data
dbSNP Id:
rs1948171163
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.8138667_8138668insCA , CM000674.2:g.8138667_8138668insCA
GRCh38
NC_000012.11:g.8291263_8291264insCA , CM000674.1:g.8291263_8291264insCA
GRCh37
NC_000012.10:g.8182530_8182531insCA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000402465.8:c.114+414_114+415insCA
ENST00000402465.7:c.-151+414_-151+415insCA
ENSP00000384896.3:n.-151+414_-151+415insCA
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