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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:
CA2161511847
Gene: IGHG3
HGNC
NCBI
Linked Data
dbSNP Id:
rs2092065797
gnomAD v4:
14-105766061-CCCT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.105766063_105766065del , CM000676.2:g.105766063_105766065del
GRCh38
NC_000014.8:g.106232400_106232402del , CM000676.1:g.106232400_106232402del
GRCh37
NC_000014.7:g.105303445_105303447del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000641136.1:c.1257-67_1257-65del
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