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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:
CA2664269914
Gene: SSUH2
HGNC
NCBI
Linked Data
gnomAD v4:
3-8733765-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.8733767del , CM000665.2:g.8733767del
GRCh38
NC_000003.11:g.8775453del , CM000665.1:g.8775453del
GRCh37
NC_000003.10:g.8750453del
NCBI36
NG_008797.2:g.4958del , LRG_329:g.4958del
Transcript Alleles
HGVS
Amino-acid change
ENST00000435138.5:c.64+8693del
ENSP00000412333.1:n.64+8693del
ENST00000478513.1:n.335+8693del
XR_940435.1:n.330+8693del
XM_017006530.1:c.-283+8693del
XP_016862019.1:n.-283+8693del
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