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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:
CA2683803690
Gene: PON1
HGNC
NCBI
Linked Data
gnomAD v4:
7-95324656-AC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.95324658del , CM000669.2:g.95324658del
GRCh38
NC_000007.13:g.94953970del , CM000669.1:g.94953970del
GRCh37
NC_000007.12:g.94791906del
NCBI36
NG_008779.1:g.4916del
NG_008779.2:g.5050del
Transcript Alleles
HGVS
Amino-acid change
ENST00000222381.7:c.-182del
ENSP00000222381.3:n.-182del
NM_000446.6:c.-182del
NP_000437.3:n.-182del
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