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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:
CA1814710429
Gene: CCN3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.119423572_119423573delinsCA , CM000670.2:g.119423572_119423573delinsCA
GRCh38
NC_000008.10:g.120435812_120435813delinsCA , CM000670.1:g.120435812_120435813delinsCA
GRCh37
NC_000008.9:g.120504993_120504994delinsCA
NCBI36
NG_009779.1:g.12261_12262delinsCA
Transcript Alleles
HGVS
Amino-acid change
ENST00000259526.4:c.*440_*441delinsCA
MANE Select
ENSP00000259526.3:n.*440_*441delinsCA
ENST00000259526.3:c.*440_*441delinsCA
ENSP00000259526.3:n.*440_*441delinsCA
NM_002514.3:c.*440_*441delinsCA
NP_002505.1:n.*440_*441delinsCA
NM_002514.4:c.*440_*441delinsCA
MANE Select
NP_002505.1:n.*440_*441delinsCA
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