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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:
CA1089213373
Gene: HCRTR2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1767232800
gnomAD v3:
6-55283339-A-ATCTGGGG
gnomAD v4:
6-55283339-A-ATCTGGGG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.55283340_55283346dup , CM000668.2:g.55283340_55283346dup
GRCh38
NC_000006.11:g.55148138_55148144dup , CM000668.1:g.55148138_55148144dup
GRCh37
NC_000006.10:g.55256097_55256103dup
NCBI36
NG_012447.1:g.114068_114074dup
NG_012447.2:g.181881_181887dup
Transcript Alleles
HGVS
Amino-acid Change
XM_017010798.1:c.1331+890_1331+896dup
XP_016866287.1:n.1331+890_1331+896dup
Search 100 bp 5'
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