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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:
CA545480416
Gene: CD96
HGNC
NCBI
Linked Data
dbSNP Id:
rs1457894828
gnomAD v2:
3-111052514-ACT-A
gnomAD v3:
3-111333667-ACT-A
gnomAD v4:
3-111333667-ACT-A
MyVariant Identifiers:
chr3:g.111052515_111052516del (hg19)
chr3:g.111333668_111333669del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.111333672_111333673del , CM000665.2:g.111333672_111333673del
GRCh38
NC_000003.11:g.111052519_111052520del , CM000665.1:g.111052519_111052520del
GRCh37
NC_000003.10:g.112535209_112535210del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000460744.1:c.-325-30841_-325-30840del
ENSP00000475194.1:n.-325-30841_-325-30840...
XR_924332.1:n.163+27154_163+27155del
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