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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:
CA2673999522
Gene: HTR1A
HGNC
NCBI
Linked Data
gnomAD v4:
5-63962201-C-CCT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.63962201_63962202insCT , CM000667.2:g.63962201_63962202insCT
GRCh38
NC_000005.9:g.63258028_63258029insCT , CM000667.1:g.63258028_63258029insCT
GRCh37
NC_000005.8:g.63293784_63293785insCT
NCBI36
NG_032816.1:g.5091_5092insAG
Transcript Alleles
HGVS
Amino-acid change
ENST00000323865.5:c.-483_-482insAG
MANE Select
ENSP00000316244.4:n.-483_-482insAG
ENST00000506598.1:c.-387-96_-387-95insAG
ENSP00000423433.1:n.-387-96_-387-95insAG
NM_000524.3:c.-483_-482insAG
NP_000515.2:n.-483_-482insAG
NM_000524.4:c.-483_-482insAG
MANE Select
NP_000515.2:n.-483_-482insAG
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