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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:
CA1283487588
Gene:
Linked Data
dbSNP Id:
rs1690915222
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.120332259del , CM000664.2:g.120332259del
GRCh38
NC_000002.11:g.121089835del , CM000664.1:g.121089835del
GRCh37
NC_000002.10:g.120806305del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_011512307.1:c.141+3453del
XP_011510609.1:n.141+3453del
Search 100 bp 5'
Search 100 bp 3'