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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
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Canonical Allele Identifier:
CA1344418087
Gene: CAV3
HGNC
NCBI
OXTR
HGNC
NCBI
Linked Data
dbSNP Id:
rs1708756019
gnomAD v3:
3-8771659-GA-G
gnomAD v4:
3-8771659-GA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.8771661del , CM000665.2:g.8771661del
GRCh38
NC_000003.11:g.8813347del , CM000665.1:g.8813347del
GRCh37
NC_000003.10:g.8788347del
NCBI36
NG_008797.2:g.42852del , LRG_329:g.42852del
Transcript Alleles
HGVS
Amino-acid change
ENST00000472766.1:n.156-5816del
(CAV3)
XM_011533763.1:c.-238-3069del
(OXTR)
XP_011532065.1:n.-238-3069del
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