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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:
CA422375898
Gene: PACERR
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr1:g.186650533C>A (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.186681401C>A , CM000663.2:g.186681401C>A
GRCh38
NC_000001.10:g.186650533C>A , CM000663.1:g.186650533C>A
GRCh37
NC_000001.9:g.184917156C>A
NCBI36
NG_028206.2:g.4027G>T
Transcript Alleles
HGVS
Amino-acid Change
NR_125801.1:n.748C>A
Search 100 bp 5'
Search 100 bp 3'