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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:
CA2579758046
Gene: RHO
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.129532336_129532344del , CM000665.2:g.129532336_129532344del
GRCh38
NC_000003.11:g.129251179_129251187del , CM000665.1:g.129251179_129251187del
GRCh37
NC_000003.10:g.130733869_130733877del
NCBI36
NG_009115.1:g.8698_8706del
Transcript Alleles
HGVS
Amino-acid change
ENST00000296271.4:c.616_624del
MANE Select
ENSP00000296271.3:p.Tyr206_Phe208del
ENST00000296271.3:c.616_624del
ENSP00000296271.3:p.Tyr206_Phe208del
NM_000539.3:c.616_624del
MANE Select
NP_000530.1:p.Tyr206_Phe208del
Search 100 bp 5'
Search 100 bp 3'