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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:
CA2824290648
Gene: OPN1MW
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.154191596dup , CM000685.2:g.154191596dup
GRCh38
NC_000023.10:g.153457087dup , CM000685.1:g.153457087dup
GRCh37
NG_011606.1:g.14003dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000595290.6:c.579-92dup
MANE Select
ENSP00000472316.1:n.579-92dup
ENST00000595290.5:c.579-92dup
ENSP00000472316.1:n.579-92dup
ENST00000595330.1:n.588+1374dup
ENST00000596998.2:c.166-92dup
NM_000513.2:c.579-92dup
MANE Select
NP_000504.1:n.579-92dup
Search 100 bp 5'
Search 100 bp 3'