ClinGen Allele Registry
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Canonical Allele Identifier:
CA1099316494
Gene: STEAP1B
HGNC
NCBI
Linked Data
dbSNP Id:
rs1783893055
gnomAD v3:
7-22716892-T-C
gnomAD v4:
7-22716892-T-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.22716892T>C , CM000669.2:g.22716892T>C
GRCh38
NC_000007.13:g.22756511T>C , CM000669.1:g.22756511T>C
GRCh37
NC_000007.12:g.22723036T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000650428.1:n.46+10676A>G
Search 100 bp 5'
Search 100 bp 3'