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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:
CA359908679
Gene: CD180
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr5:g.66480012T>A (hg19)
chr5:g.67184184T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.67184184T>A , CM000667.2:g.67184184T>A
GRCh38
NC_000005.9:g.66480012T>A , CM000667.1:g.66480012T>A
GRCh37
NC_000005.8:g.66515768T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000256447.5:c.659A>T
MANE Select
ENSP00000256447.4:p.Asp220Val
NM_005582.2:c.659A>T
NP_005573.2:p.Asp220Val
XM_005248504.3:c.620A>T
XP_005248561.1:p.Asp207Val
XM_005248504.4:c.620A>T
XP_005248561.1:p.Asp207Val
NM_005582.3:c.659A>T
MANE Select
NP_005573.2:p.Asp220Val
Search 100 bp 5'
Search 100 bp 3'