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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:
CA232064542
Gene: CRACR2A
HGNC
NCBI
Linked Data
dbSNP Id:
rs5796075
MyVariant Identifiers:
chr12:g.3868098_3868099insTGTCTCAC (hg19)
chr12:g.3758932_3758933insTGTCTCAC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.3758934_3758941dup , CM000674.2:g.3758934_3758941dup
GRCh38
NC_000012.11:g.3868100_3868107dup , CM000674.1:g.3868100_3868107dup
GRCh37
NC_000012.10:g.3738361_3738368dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000514026.2:n.255+5625_255+5632dup
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