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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:
CA2580612491
Gene: HPRT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10050
ClinVar RCV Id:
RCV000010750
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.134475366_134475367del , CM000685.2:g.134475366_134475367del
GRCh38
NC_000023.10:g.133609396_133609397del , CM000685.1:g.133609396_133609397del
GRCh37
NC_000023.9:g.133437062_133437063del
NCBI36
NG_012329.1:g.20222_20223del
NG_012329.2:g.20222_20223del
Transcript Alleles
HGVS
Amino-acid change
ENST00000298556.8:c.318+2_318+3del
ENST00000298556.7:c.318+2_318+3del
ENST00000462974.5:n.476+2_476+3del
ENST00000475720.1:n.276+2_276+3del
NM_000194.2:c.318+2_318+3del
XM_011531328.1:c.336+2_336+3del
NM_000194.3:c.318+2_318+3del
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