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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:
CA1099316524
Gene: STEAP1B
HGNC
NCBI
Linked Data
gnomAD v3:
7-22716903-TGG-T
gnomAD v4:
7-22716903-TGG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.22716904_22716905del , CM000669.2:g.22716904_22716905del
GRCh38
NC_000007.13:g.22756523_22756524del , CM000669.1:g.22756523_22756524del
GRCh37
NC_000007.12:g.22723048_22723049del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000650428.1:n.46+10663_46+10664del
Search 100 bp 5'
Search 100 bp 3'