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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:
CA2709133497
Gene: HTR1A
HGNC
NCBI
Linked Data
dbSNP Id:
rs2111833775
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.63962124del , CM000667.2:g.63962124del
GRCh38
NC_000005.9:g.63257951del , CM000667.1:g.63257951del
GRCh37
NC_000005.8:g.63293707del
NCBI36
NG_032816.1:g.5172del
Transcript Alleles
HGVS
Amino-acid change
ENST00000323865.5:c.-402del
MANE Select
ENSP00000316244.4:n.-402del
ENST00000323865.4:c.-402del
ENSP00000316244.3:n.-402del
ENST00000506598.1:c.-387-15del
ENSP00000423433.1:n.-387-15del
NM_000524.3:c.-402del
NP_000515.2:n.-402del
NM_000524.4:c.-402del
MANE Select
NP_000515.2:n.-402del
Search 100 bp 5'
Search 100 bp 3'