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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
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Canonical Allele Identifier:
CA1953983691
Gene: CYP2R1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.14893903_14893904delinsGA , CM000673.2:g.14893903_14893904delinsGA
GRCh38
NC_000011.9:g.14915449_14915450delinsGA , CM000673.1:g.14915449_14915450delinsGA
GRCh37
NC_000011.8:g.14872025_14872026delinsGA
NCBI36
NG_007936.1:g.3302_3303delinsTC
Transcript Alleles
HGVS
Amino-acid change
XM_011519898.1:c.-1660_-1659delinsTC
XP_011518200.1:n.-1660_-1659delinsTC
XM_011519898.3:c.-1660_-1659delinsTC
XP_011518200.1:n.-1660_-1659delinsTC
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