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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:
CA127361
Gene: ADRB2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr5:g.148206473G>G (hg19)
chr5:g.148826910G>G (hg38)
PubMed:
PMID:9275150
PMID:9399946
PMID:9399966
PMID:9522789
PMID:12030897
PMID:14557466
PMID:15867853
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.148826910G= , CM000667.2:g.148826910G=
GRCh38
NC_000005.9:g.148206473G= , CM000667.1:g.148206473G=
GRCh37
NC_000005.8:g.148186666G=
NCBI36
NG_016421.2:g.5318G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000305988.6:c.79G=
MANE Select
ENSP00000305372.4:p.Glu27=
ENST00000305988.5:c.79G=
ENSP00000305372.4:p.Glu27=
NM_000024.6:c.79G=
MANE Select
NP_000015.2:p.Glu27=
Search 100 bp 5'
Search 100 bp 3'