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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:
CA911559149
Gene: CAV3
HGNC
NCBI
OXTR
HGNC
NCBI
Linked Data
dbSNP Id:
rs1363675686
MyVariant Identifiers:
chr3:g.8813308G>C (hg19)
chr3:g.8771622G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.8771622G>C , CM000665.2:g.8771622G>C
GRCh38
NC_000003.11:g.8813308G>C , CM000665.1:g.8813308G>C
GRCh37
NC_000003.10:g.8788308G>C
NCBI36
NG_008797.2:g.42813G>C , LRG_329:g.42813G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000472766.1:n.156-5855G>C
(CAV3)
XM_011533763.1:c.-238-3031C>G
(OXTR)
XP_011532065.1:n.-238-3031C>G
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