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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:
CA2683803512
Gene: PON1
HGNC
NCBI
Linked Data
gnomAD v4:
7-95324565-C-CAG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.95324565_95324566insAG , CM000669.2:g.95324565_95324566insAG
GRCh38
NC_000007.13:g.94953877_94953878insAG , CM000669.1:g.94953877_94953878insAG
GRCh37
NC_000007.12:g.94791813_94791814insAG
NCBI36
NG_008779.1:g.5007_5008insCT
NG_008779.2:g.5141_5142insCT
Transcript Alleles
HGVS
Amino-acid change
ENST00000222381.7:c.-91_-90insCT
ENSP00000222381.3:n.-91_-90insCT
NM_000446.5:c.-91_-90insCT
NP_000437.3:n.-91_-90insCT
NM_000446.6:c.-91_-90insCT
NP_000437.3:n.-91_-90insCT
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