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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:
CA2670614614
Gene: SGCB
HGNC
NCBI
Linked Data
gnomAD v4:
4-52038236-AGCCGCCGCCGCCGCTGCCGCCATCTTCCCGCGCCC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.52038247_52038281del , CM000666.2:g.52038247_52038281del
GRCh38
NC_000004.11:g.52904413_52904447del , CM000666.1:g.52904413_52904447del
GRCh37
NC_000004.10:g.52599170_52599204del
NCBI36
NG_008891.1:g.5049_5083del , LRG_204:g.5049_5083del
Transcript Alleles
HGVS
Amino-acid change
ENST00000381431.10:c.-12_23del
ENST00000381431.9:c.-12_23del
NM_000232.4:c.-12_23del , LRG_204t1:c.-12_23del
XM_011534403.1:c.-12_23del
NM_000232.5:c.-12_23del
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