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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:
CA917495398
Gene: CD180
HGNC
NCBI
Linked Data
dbSNP Id:
rs1554036030
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.67184177del , CM000667.2:g.67184177del
GRCh38
NC_000005.9:g.66480005del , CM000667.1:g.66480005del
GRCh37
NC_000005.8:g.66515761del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000256447.5:c.666del
MANE Select
ENSP00000256447.4:p.Ile223SerfsTer5
NM_005582.2:c.666del
NP_005573.2:p.Ile223SerfsTer5
XM_005248504.3:c.627del
XP_005248561.1:p.Ile210SerfsTer5
XM_005248504.4:c.627del
XP_005248561.1:p.Ile210SerfsTer5
NM_005582.3:c.666del
MANE Select
NP_005573.2:p.Ile223SerfsTer5
Search 100 bp 5'
Search 100 bp 3'