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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:
CA633172764
Gene:
Linked Data
dbSNP Id:
rs1555807509
gnomAD v2:
19-42152187-C-CCTTCAACA
MyVariant Identifiers:
chr19:g.42152187_42152188insCTTCAACA (hg19)
chr19:g.41648266_41648267insCTTCAACA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.41648267_41648274dup , CM000681.2:g.41648267_41648274dup
GRCh38
NC_000019.9:g.42152188_42152195dup , CM000681.1:g.42152188_42152195dup
GRCh37
NC_000019.8:g.46844028_46844035dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_935972.1:n.170+3228_170+3235dup
Search 100 bp 5'
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