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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:
CA2781156145
Gene: CNGB3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.86667131_86667139del , CM000670.2:g.86667131_86667139del
GRCh38
NC_000008.10:g.87679359_87679367del , CM000670.1:g.87679359_87679367del
GRCh37
NC_000008.9:g.87748475_87748483del
NCBI36
NG_016980.1:g.81537_81545del
Transcript Alleles
HGVS
Amino-acid change
ENST00000320005.6:c.644-6_646del
ENST00000681746.1:c.644-6_646del
ENST00000320005.5:c.644-6_646del
NM_019098.4:c.644-6_646del
XM_011517138.1:c.230-6_232del
XM_011517138.2:c.230-6_232del
NM_019098.5:c.644-6_646del
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