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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:
CA1551421513
Gene: HTR1A
HGNC
NCBI
Linked Data
dbSNP Id:
rs1746454771
gnomAD v4:
5-63962199-TTC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.63962207_63962208del , CM000667.2:g.63962207_63962208del
GRCh38
NC_000005.9:g.63258034_63258035del , CM000667.1:g.63258034_63258035del
GRCh37
NC_000005.8:g.63293790_63293791del
NCBI36
NG_032816.1:g.5092_5093del
Transcript Alleles
HGVS
Amino-acid change
ENST00000323865.5:c.-482_-481del
MANE Select
ENSP00000316244.4:n.-482_-481del
ENST00000506598.1:c.-387-95_-387-94del
ENSP00000423433.1:n.-387-95_-387-94del
NM_000524.3:c.-482_-481del
NP_000515.2:n.-482_-481del
NM_000524.4:c.-482_-481del
MANE Select
NP_000515.2:n.-482_-481del
Search 100 bp 5'
Search 100 bp 3'