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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:
CA753333057
Gene: CYP2D6
HGNC
NCBI
Linked Data
dbSNP Id:
rs1258356380
MyVariant Identifiers:
chr22:g.42132198_42132200del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.42132202_42132204del , CM000684.2:g.42132202_42132204del
GRCh38
NC_000022.10:g.42528209_42528211del , CM000684.1:g.42528209_42528211del
GRCh37
NC_000022.9:g.40858153_40858155del
NCBI36
NG_008376.3:g.2792_2794del
NG_008376.4:g.3611_3613del
Transcript Alleles
HGVS
Amino-acid change
XM_011529967.1:c.-1045-364_-1045-362del
XP_011528269.1:n.-1045-364_-1045-362del
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