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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:
CA1786026997
Gene: PENK-AS1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.56448019_56448035delinsTCTACAGTCGCTAGGAC , CM000670.2:g.56448019_56448035delinsTCTACAGTCGCTAGGAC
GRCh38
NC_000008.10:g.57360578_57360594delinsTCTACAGTCGCTAGGAC , CM000670.1:g.57360578_57360594delinsTCTACAGTCGCTAGGAC
GRCh37
NC_000008.9:g.57523132_57523148delinsTCTACAGTCGCTAGGAC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_125813.1:n.694+1519_694+1535delinsTCTACAGTCGCTAGGAC
Search 100 bp 5'
Search 100 bp 3'