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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:
CA2680487750
Gene: PEX7
HGNC
NCBI
Linked Data
gnomAD v4:
6-136822532-TC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.136822533del , CM000668.2:g.136822533del
GRCh38
NC_000006.11:g.137143671del , CM000668.1:g.137143671del
GRCh37
NC_000006.10:g.137185364del
NCBI36
NG_008462.1:g.4954del
Transcript Alleles
HGVS
Amino-acid change
XM_006715502.1:c.-133del
XP_006715565.1:n.-133del
XM_011535900.1:c.-133del
XP_011534202.1:n.-133del
XM_006715502.2:c.-133del
XP_006715565.1:n.-133del
XM_017010934.2:c.-133del
XP_016866423.1:n.-133del
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