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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:
CA1552876160
Gene: CD180
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.67184175_67184176delinsAT , CM000667.2:g.67184175_67184176delinsAT
GRCh38
NC_000005.9:g.66480003_66480004delinsAT , CM000667.1:g.66480003_66480004delinsAT
GRCh37
NC_000005.8:g.66515759_66515760delinsAT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000256447.5:c.667_668delinsAT
MANE Select
ENSP00000256447.4:p.Ile223=
NM_005582.2:c.667_668delinsAT
NP_005573.2:p.Ile223=
XM_005248504.3:c.628_629delinsAT
XP_005248561.1:p.Ile210=
XM_005248504.4:c.628_629delinsAT
XP_005248561.1:p.Ile210=
NM_005582.3:c.667_668delinsAT
MANE Select
NP_005573.2:p.Ile223=
Search 100 bp 5'
Search 100 bp 3'