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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:
CA2667618280
Gene: RHO
HGNC
NCBI
Linked Data
gnomAD v4:
3-129533568-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.129533571del , CM000665.2:g.129533571del
GRCh38
NC_000003.11:g.129252414del , CM000665.1:g.129252414del
GRCh37
NC_000003.10:g.130735104del
NCBI36
NG_009115.1:g.9933del
Transcript Alleles
HGVS
Amino-acid change
ENST00000296271.4:c.937-37del
MANE Select
ENSP00000296271.3:n.937-37del
ENST00000296271.3:c.937-37del
ENSP00000296271.3:n.937-37del
NM_000539.3:c.937-37del
MANE Select
NP_000530.1:n.937-37del
Search 100 bp 5'
Search 100 bp 3'