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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:
CA2670614619
Gene: SGCB
HGNC
NCBI
Linked Data
gnomAD v4:
4-52038240-GCCGCCGCCGCTGCCGCCATCTTC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.52038245_52038267del , CM000666.2:g.52038245_52038267del
GRCh38
NC_000004.11:g.52904411_52904433del , CM000666.1:g.52904411_52904433del
GRCh37
NC_000004.10:g.52599168_52599190del
NCBI36
NG_008891.1:g.5057_5079del , LRG_204:g.5057_5079del
Transcript Alleles
HGVS
Amino-acid change
ENST00000381431.10:c.-4_19del
ENST00000381431.9:c.-4_19del
NM_000232.4:c.-4_19del , LRG_204t1:c.-4_19del
XM_011534403.1:c.-4_19del
NM_000232.5:c.-4_19del
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