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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:
CA1095334702
Gene: PEX3
HGNC
NCBI
Linked Data
gnomAD v3:
6-143489530-A-T
gnomAD v4:
6-143489530-A-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.143489530A>T , CM000668.2:g.143489530A>T
GRCh38
NC_000006.11:g.143810667A>T , CM000668.1:g.143810667A>T
GRCh37
NC_000006.10:g.143852360A>T
NCBI36
NG_008459.1:g.43750A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000367591.5:c.*304A>T
MANE Select
ENSP00000356563.4:n.*304A>T
ENST00000367591.4:c.*304A>T
ENSP00000356563.4:n.*304A>T
NM_003630.2:c.*304A>T
NP_003621.1:n.*304A>T
NM_003630.3:c.*304A>T
MANE Select
NP_003621.1:n.*304A>T
Search 100 bp 5'
Search 100 bp 3'