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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:
CA1099316492
Gene: STEAP1B
HGNC
NCBI
Linked Data
dbSNP Id:
rs35214159
gnomAD v3:
7-22716891-C-CTT
gnomAD v4:
7-22716891-C-CTT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.22716902_22716903dup , CM000669.2:g.22716902_22716903dup
GRCh38
NC_000007.13:g.22756521_22756522dup , CM000669.1:g.22756521_22756522dup
GRCh37
NC_000007.12:g.22723046_22723047dup
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000650428.1:n.46+10675_46+10676dup
Search 100 bp 5'
Search 100 bp 3'