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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:
CA265876956
Gene:
Linked Data
dbSNP Id:
rs34105181
MyVariant Identifiers:
chr14:g.95078596_95078597insC (hg19)
chr14:g.94612259_94612260insC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.94612262dup , CM000676.2:g.94612262dup
GRCh38
NC_000014.8:g.95078599dup , CM000676.1:g.95078599dup
GRCh37
NC_000014.7:g.94148352dup
NCBI36
NG_012879.1:g.4886dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000553947.1:c.805-35dup
Search 100 bp 5'
Search 100 bp 3'