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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:
CA2722526223
Gene: CYP2C19
HGNC
NCBI
Linked Data
dbSNP Id:
rs2134239839
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.94780723dup , CM000672.2:g.94780723dup
GRCh38
NC_000010.10:g.96540480dup , CM000672.1:g.96540480dup
GRCh37
NC_000010.9:g.96530470dup
NCBI36
NG_008384.2:g.23018dup
NG_008384.3:g.23043dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000371321.9:c.642+64dup
MANE Select
ENSP00000360372.3:n.642+64dup
ENST00000645461.1:n.1695+64dup
ENST00000371321.7:c.642+64dup
ENSP00000360372.3:n.642+64dup
ENST00000464755.1:c.1405+64dup
ENSP00000483243.1:n.1405+64dup
NM_000769.2:c.642+64dup
NP_000760.1:n.642+64dup
NM_000769.4:c.642+64dup
MANE Select
NP_000760.1:n.642+64dup
Search 100 bp 5'
Search 100 bp 3'