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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:
CA993061083
Gene: C3
HGNC
NCBI
Linked Data
dbSNP Id:
rs1968208622
gnomAD v3:
19-6722611-ATC-A
gnomAD v4:
19-6722611-ATC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.6722615_6722616del , CM000681.2:g.6722615_6722616del
GRCh38
NC_000019.9:g.6722626_6722627del , CM000681.1:g.6722626_6722627del
GRCh37
NC_000019.8:g.6673626_6673627del
NCBI36
NG_009557.1:g.3039_3040del , LRG_27:g.3039_3040del
Transcript Alleles
HGVS
Amino-acid change
ENST00000600744.1:c.-50+828_-50+829del
ENSP00000472044.1:n.-50+828_-50+829del
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