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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:
CA103120431
Gene:
Linked Data
dbSNP Id:
rs774588914
MyVariant Identifiers:
chr4:g.103422159_103422161del (hg19)
chr4:g.102501002_102501004del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.102501002_102501004del , CM000666.2:g.102501002_102501004del
GRCh38
NC_000004.11:g.103422159_103422161del , CM000666.1:g.103422159_103422161del
GRCh37
NC_000004.10:g.103641191_103641193del
NCBI36
NG_050628.1:g.4674_4676del
Transcript Alleles
HGVS
Amino-acid change
XM_011532467.1:c.643+245_643+247del
XP_011530769.1:n.643+245_643+247del
NR_136202.1:n.48+1435_48+1437del
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