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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:
CA1138562330
Gene: OPN1MW
HGNC
NCBI
Linked Data
dbSNP Id:
rs2067114886
gnomAD v3:
X-154191535-G-T
gnomAD v4:
X-154191535-G-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.154191535G>T , CM000685.2:g.154191535G>T
GRCh38
NC_000023.10:g.153457026G>T , CM000685.1:g.153457026G>T
GRCh37
NG_011606.1:g.13942G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000595290.6:c.579-153G>T
MANE Select
ENSP00000472316.1:n.579-153G>T
ENST00000595290.5:c.579-153G>T
ENSP00000472316.1:n.579-153G>T
ENST00000595330.1:n.588+1313G>T
ENST00000596998.2:c.166-153G>T
NM_000513.2:c.579-153G>T
MANE Select
NP_000504.1:n.579-153G>T
Search 100 bp 5'
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