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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:
PA645380110
Gene: OCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429697
ClinVar RCV Id:
RCV000493655
RCV000762937
RCV002470881
RCV003470613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000266.2:p.Cys777Tyr
CA7438634
NM_000275.3:c.2330G>A