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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:
CA2673999485
Gene: HTR1A
HGNC
NCBI
Linked Data
gnomAD v4:
5-63962176-CTCTCCCCCTCTCTCCTCCTCTCTTCTCTCTCTTCTGCCTCTTTCGTCCCCCT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.63962184_63962235del , CM000667.2:g.63962184_63962235del
GRCh38
NC_000005.9:g.63258011_63258062del , CM000667.1:g.63258011_63258062del
GRCh37
NC_000005.8:g.63293767_63293818del
NCBI36
NG_032816.1:g.5065_5116del
Transcript Alleles
HGVS
Amino-acid change
ENST00000323865.5:c.-509_-458del
MANE Select
ENSP00000316244.4:n.-509_-458del
ENST00000506598.1:c.-387-122_-387-71del
ENSP00000423433.1:n.-387-122_-387-71del
NM_000524.3:c.-509_-458del
NP_000515.2:n.-509_-458del
NM_000524.4:c.-509_-458del
MANE Select
NP_000515.2:n.-509_-458del
Search 100 bp 5'
Search 100 bp 3'