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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:
CA1962085171
Gene: RCN1
HGNC
NCBI
PAX6-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1957851578
gnomAD v3:
11-31863365-G-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.31863365G>A , CM000673.2:g.31863365G>A
GRCh38
NC_000011.9:g.31884911G>A , CM000673.1:g.31884911G>A
GRCh37
NC_000011.8:g.31841487G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000506388.2:n.75-21929G>A
(RCN1)
ENST00000530348.5:c.-245+50868G>A
(RCN1)
ENSP00000436482.1:n.-245+50868G>A
ENST00000532942.5:c.101+46726G>A
(RCN1)
ENSP00000436422.1:n.101+46726G>A
NR_033971.1:n.75-21929G>A
(PAX6-AS1)
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