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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:
CA837548486
Gene:
Linked Data
dbSNP Id:
rs1378112898
MyVariant Identifiers:
chr7:g.30951135_30951136insT (hg19)
chr7:g.30911520_30911521insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.30911521dup , CM000669.2:g.30911521dup
GRCh38
NC_000007.13:g.30951136dup , CM000669.1:g.30951136dup
GRCh37
NC_000007.12:g.30917661dup
NCBI36
NG_007475.2:g.63128dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000509504.2:c.622-472dup
Search 100 bp 5'
Search 100 bp 3'