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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:
CA639489175
Gene: CYP2D6
HGNC
NCBI
Linked Data
dbSNP Id:
rs1415958162
gnomAD v2:
22-42528188-G-A
gnomAD v3:
22-42132181-G-A
gnomAD v4:
22-42132181-G-A
MyVariant Identifiers:
chr22:g.42528188G>A (hg19)
chr22:g.42132181G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.42132181G>A , CM000684.2:g.42132181G>A
GRCh38
NC_000022.10:g.42528188G>A , CM000684.1:g.42528188G>A
GRCh37
NC_000022.9:g.40858132G>A
NCBI36
NG_008376.3:g.2811C>T
NG_008376.4:g.3630C>T
Transcript Alleles
HGVS
Amino-acid change
XM_011529967.1:c.-1045-345C>T
XP_011528269.1:n.-1045-345C>T
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