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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:
CA1099316498
Gene: STEAP1B
HGNC
NCBI
Linked Data
dbSNP Id:
rs35214159
gnomAD v3:
7-22716891-CTTT-C
gnomAD v4:
7-22716891-CTTT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.22716901_22716903del , CM000669.2:g.22716901_22716903del
GRCh38
NC_000007.13:g.22756520_22756522del , CM000669.1:g.22756520_22756522del
GRCh37
NC_000007.12:g.22723045_22723047del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000650428.1:n.46+10674_46+10676del
Search 100 bp 5'
Search 100 bp 3'