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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
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Canonical Allele Identifier:
CA2562816903
Gene: SSUH2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.8733758_8733759insGCGTTTCC , CM000665.2:g.8733758_8733759insGCGTTTCC
GRCh38
NC_000003.11:g.8775444_8775445insGCGTTTCC , CM000665.1:g.8775444_8775445insGCGTTTCC
GRCh37
NC_000003.10:g.8750444_8750445insGCGTTTCC
NCBI36
NG_008797.2:g.4949_4950insGCGTTTCC , LRG_329:g.4949_4950insGCGTTTCC
Transcript Alleles
HGVS
Amino-acid change
ENST00000435138.5:c.64+8700_64+8701insGGAAACGC
ENSP00000412333.1:n.64+8700_64+8701insGGA...
ENST00000478513.1:n.335+8700_335+8701insGGAAACGC
XR_940435.1:n.330+8700_330+8701insGGAAACGC
XM_017006530.1:c.-283+8700_-283+8701insGGAAACGC
XP_016862019.1:n.-283+8700_-283+8701insGG...
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