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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:
CA918736701
Gene: CYP2C9
HGNC
NCBI
Linked Data
dbSNP Id:
rs1564719943
gnomAD v3:
10-94981138-GC-G
gnomAD v4:
10-94981138-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.94981140del , CM000672.2:g.94981140del
GRCh38
NC_000010.10:g.96740897del , CM000672.1:g.96740897del
GRCh37
NC_000010.9:g.96730887del
NCBI36
NG_008385.1:g.47483del
NG_008385.2:g.47983del
Transcript Alleles
HGVS
Amino-acid change
ENST00000260682.8:c.962-43del
MANE Select
ENSP00000260682.6:n.962-43del
ENST00000643112.1:c.820-43del
ENSP00000496202.1:n.820-43del
ENST00000260682.6:c.962-43del
ENSP00000260682.6:n.962-43del
NM_000771.3:c.962-43del
NP_000762.2:n.962-43del
NM_000771.4:c.962-43del
MANE Select
NP_000762.2:n.962-43del
Search 100 bp 5'
Search 100 bp 3'