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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:
CA347278
Gene:
Linked Data
ClinVar Variation Id:
192243
ClinVar RCV Id:
RCV000192214
MyVariant Identifiers:
chr19:g.36396786_36402027del (hg19)
chr19:g.35905884_35911125del (hg38)
PubMed:
PMID:10888890
PMID:11109371
PMID:20301376
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.35905884_35911125del , CM000681.2:g.35905884_35911125del
GRCh38
NC_000019.9:g.36396786_36402027del , CM000681.1:g.36396786_36402027del
GRCh37
NC_000019.8:g.41088626_41093867del
NCBI36
NG_009304.1:g.2161_7402del , LRG_607:g.2161_7402del
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