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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:
CA2579758043
Gene: RHO
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.129533653del , CM000665.2:g.129533653del
GRCh38
NC_000003.11:g.129252496del , CM000665.1:g.129252496del
GRCh37
NC_000003.10:g.130735186del
NCBI36
NG_009115.1:g.10015del
Transcript Alleles
HGVS
Amino-acid change
ENST00000296271.4:c.982del
MANE Select
ENSP00000296271.3:p.Leu328TrpfsTer?
ENST00000296271.3:c.982del
ENSP00000296271.3:p.Leu328TrpfsTer?
NM_000539.3:c.982del
MANE Select
NP_000530.1:p.Leu328TrpfsTer?
Search 100 bp 5'
Search 100 bp 3'