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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:
CA2683803504
Gene: PON1
HGNC
NCBI
Linked Data
gnomAD v4:
7-95324560-G-GCT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.95324560_95324561insCT , CM000669.2:g.95324560_95324561insCT
GRCh38
NC_000007.13:g.94953872_94953873insCT , CM000669.1:g.94953872_94953873insCT
GRCh37
NC_000007.12:g.94791808_94791809insCT
NCBI36
NG_008779.1:g.5012_5013insAG
NG_008779.2:g.5146_5147insAG
Transcript Alleles
HGVS
Amino-acid change
ENST00000222381.7:c.-86_-85insAG
ENSP00000222381.3:n.-86_-85insAG
NM_000446.5:c.-86_-85insAG
NP_000437.3:n.-86_-85insAG
NM_000446.6:c.-86_-85insAG
NP_000437.3:n.-86_-85insAG
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