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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:
CA2673999533
Gene: HTR1A
HGNC
NCBI
Linked Data
gnomAD v4:
5-63962206-TCTTCTGC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.63962209_63962215del , CM000667.2:g.63962209_63962215del
GRCh38
NC_000005.9:g.63258036_63258042del , CM000667.1:g.63258036_63258042del
GRCh37
NC_000005.8:g.63293792_63293798del
NCBI36
NG_032816.1:g.5080_5086del
Transcript Alleles
HGVS
Amino-acid change
ENST00000323865.5:c.-494_-488del
MANE Select
ENSP00000316244.4:n.-494_-488del
ENST00000506598.1:c.-387-107_-387-101del
ENSP00000423433.1:n.-387-107_-387-101del
NM_000524.3:c.-494_-488del
NP_000515.2:n.-494_-488del
NM_000524.4:c.-494_-488del
MANE Select
NP_000515.2:n.-494_-488del
Search 100 bp 5'
Search 100 bp 3'