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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:
CA2014883863
Gene: ZNF705A
HGNC
NCBI
Linked Data
dbSNP Id:
rs1948170667
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.8138661_8138662insGAA , CM000674.2:g.8138661_8138662insGAA
GRCh38
NC_000012.11:g.8291257_8291258insGAA , CM000674.1:g.8291257_8291258insGAA
GRCh37
NC_000012.10:g.8182524_8182525insGAA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000402465.8:c.114+408_114+409insGAA
ENST00000402465.7:c.-151+408_-151+409insGAA
ENSP00000384896.3:n.-151+408_-151+409insGAA
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