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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:
CA2673999523
Gene: HTR1A
HGNC
NCBI
Linked Data
gnomAD v4:
5-63962201-CT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.63962202del , CM000667.2:g.63962202del
GRCh38
NC_000005.9:g.63258029del , CM000667.1:g.63258029del
GRCh37
NC_000005.8:g.63293785del
NCBI36
NG_032816.1:g.5091del
Transcript Alleles
HGVS
Amino-acid change
ENST00000323865.5:c.-483del
MANE Select
ENSP00000316244.4:n.-483del
ENST00000506598.1:c.-387-96del
ENSP00000423433.1:n.-387-96del
NM_000524.3:c.-483del
NP_000515.2:n.-483del
NM_000524.4:c.-483del
MANE Select
NP_000515.2:n.-483del
Search 100 bp 5'
Search 100 bp 3'