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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:
CA177704291
Gene: PENK-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs968569967
MyVariant Identifiers:
chr8:g.57360350T>A (hg19)
chr8:g.56447791T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.56447791T>A , CM000670.2:g.56447791T>A
GRCh38
NC_000008.10:g.57360350T>A , CM000670.1:g.57360350T>A
GRCh37
NC_000008.9:g.57522904T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_125813.1:n.694+1291T>A
Search 100 bp 5'
Search 100 bp 3'