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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:
CA2317457793
Gene: GRIN3B
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.1004898G= , CM000681.2:g.1004898G=
GRCh38
NC_000019.9:g.1004897G= , CM000681.1:g.1004897G=
GRCh37
NC_000019.8:g.955897G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000234389.3:c.1397G=
MANE Select
ENSP00000234389.3:p.Gly466=
ENST00000588335.1:n.147G=
NM_138690.1:c.1397G=
NP_619635.1:p.Gly466=
NM_138690.2:c.1397G=
NP_619635.1:p.Gly466=
XM_017026243.2:c.-182G=
XP_016881732.1:n.-182G=
NM_138690.3:c.1397G=
MANE Select
NP_619635.1:p.Gly466=
Search 100 bp 5'
Search 100 bp 3'