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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:
CA359908700
Gene: CD180
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr5:g.66480016A>C (hg19)
chr5:g.67184188A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.67184188A>C , CM000667.2:g.67184188A>C
GRCh38
NC_000005.9:g.66480016A>C , CM000667.1:g.66480016A>C
GRCh37
NC_000005.8:g.66515772A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000256447.5:c.655T>G
MANE Select
ENSP00000256447.4:p.Phe219Val
NM_005582.2:c.655T>G
NP_005573.2:p.Phe219Val
XM_005248504.3:c.616T>G
XP_005248561.1:p.Phe206Val
XM_005248504.4:c.616T>G
XP_005248561.1:p.Phe206Val
NM_005582.3:c.655T>G
MANE Select
NP_005573.2:p.Phe219Val
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