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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:
CA1552876166
Gene: CD180
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.67184176_67184177delinsTC , CM000667.2:g.67184176_67184177delinsTC
GRCh38
NC_000005.9:g.66480004_66480005delinsTC , CM000667.1:g.66480004_66480005delinsTC
GRCh37
NC_000005.8:g.66515760_66515761delinsTC
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000256447.5:c.666_667delinsGA
MANE Select
ENSP00000256447.4:p.Thr222=
NM_005582.2:c.666_667delinsGA
NP_005573.2:p.Thr222=
XM_005248504.3:c.627_628delinsGA
XP_005248561.1:p.Thr209=
XM_005248504.4:c.627_628delinsGA
XP_005248561.1:p.Thr209=
NM_005582.3:c.666_667delinsGA
MANE Select
NP_005573.2:p.Thr222=
Search 100 bp 5'
Search 100 bp 3'