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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:
CA2610264829
Gene: CYP2C19
HGNC
NCBI
Linked Data
gnomAD v4:
10-94781808-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.94781809del , CM000672.2:g.94781809del
GRCh38
NC_000010.10:g.96541566del , CM000672.1:g.96541566del
GRCh37
NC_000010.9:g.96531556del
NCBI36
NG_008384.2:g.24104del
NG_008384.3:g.24129del
Transcript Alleles
HGVS
Amino-acid change
ENST00000371321.9:c.643-12del
MANE Select
ENSP00000360372.3:n.643-12del
ENST00000645461.1:n.1696-12del
ENST00000371321.7:c.643-12del
ENSP00000360372.3:n.643-12del
ENST00000464755.1:c.1406-12del
ENSP00000483243.1:n.1406-12del
NM_000769.2:c.643-12del
NP_000760.1:n.643-12del
NM_000769.4:c.643-12del
MANE Select
NP_000760.1:n.643-12del
Search 100 bp 5'
Search 100 bp 3'