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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:
CA1592773647
Gene: SAP30L-AS1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.154431899_154431900delinsAC , CM000667.2:g.154431899_154431900delinsAC
GRCh38
NC_000005.9:g.153811459_153811460delinsAC , CM000667.1:g.153811459_153811460delinsAC
GRCh37
NC_000005.8:g.153791652_153791653delinsAC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_037897.1:n.204+11462_204+11463delinsGT
Search 100 bp 5'
Search 100 bp 3'