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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:
CA2626381749
Gene: BDKRB2
HGNC
NCBI
Linked Data
gnomAD v4:
14-96204713-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.96204717del , CM000676.2:g.96204717del
GRCh38
NC_000014.8:g.96671054del , CM000676.1:g.96671054del
GRCh37
NC_000014.7:g.95740807del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000542454.2:c.-3050del
ENSP00000439459.2:n.-3050del
Search 100 bp 5'
Search 100 bp 3'