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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:
CA631664636
Gene: C3
HGNC
NCBI
Linked Data
dbSNP Id:
rs1181122854
gnomAD v2:
19-6722647-C-CT
gnomAD v3:
19-6722636-C-CT
gnomAD v4:
19-6722636-C-CT
MyVariant Identifiers:
chr19:g.6722647_6722648insT (hg19)
chr19:g.6722636_6722637insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.6722637dup , CM000681.2:g.6722637dup
GRCh38
NC_000019.9:g.6722648dup , CM000681.1:g.6722648dup
GRCh37
NC_000019.8:g.6673648dup
NCBI36
NG_009557.1:g.3015dup , LRG_27:g.3015dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000600744.1:c.-50+804dup
ENSP00000472044.1:n.-50+804dup
Search 100 bp 5'
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