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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:
CA853453100
Gene: PENK-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1450909952
MyVariant Identifiers:
chr8:g.57360557_57360558insCCCTCTGCC (hg19)
chr8:g.56447998_56447999insCCCTCTGCC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.56448006_56448007insCCCCTCTGC , CM000670.2:g.56448006_56448007insCCCCTCTGC
GRCh38
NC_000008.10:g.57360565_57360566insCCCCTCTGC , CM000670.1:g.57360565_57360566insCCCCTCTGC
GRCh37
NC_000008.9:g.57523119_57523120insCCCCTCTGC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_125813.1:n.694+1506_694+1507insCCCCTCTGC
Search 100 bp 5'
Search 100 bp 3'