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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
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Canonical Allele Identifier:
CA1694135426
Gene: STEAP1B
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.22720812_22720818delinsCCCAGGA , CM000669.2:g.22720812_22720818delinsCCCAGGA
GRCh38
NC_000007.13:g.22760431_22760437delinsCCCAGGA , CM000669.1:g.22760431_22760437delinsCCCAGGA
GRCh37
NC_000007.12:g.22726956_22726962delinsCCCAGGA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000650428.1:n.46+6750_46+6756delinsTCCTGGG
Search 100 bp 5'
Search 100 bp 3'