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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:
CA2166307624
Gene: OCA2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.27751993_27751994delinsAT , CM000677.2:g.27751993_27751994delinsAT
GRCh38
NC_000015.9:g.27997139_27997140delinsAT , CM000677.1:g.27997139_27997140delinsAT
GRCh37
NC_000015.8:g.25670734_25670735delinsAT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_017022258.1:c.2457-32666_2457-32665delinsAT
XP_016877747.1:n.2457-32666_2457-32665delinsAT
XM_017022264.1:c.2292-32666_2292-32665delinsAT
XP_016877753.1:n.2292-32666_2292-32665delinsAT
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