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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:
CA1616896779
Gene: H2BC4
HGNC
NCBI
H2BC3
HGNC
NCBI
Linked Data
dbSNP Id:
rs1763259376
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.26107169dup , CM000668.2:g.26107169dup
GRCh38
NC_000006.11:g.26107397dup , CM000668.1:g.26107397dup
GRCh37
NC_000006.10:g.26215376dup
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000707188.1:c.391-16132dup
(H2BC4)
ENSP00000516775.1:n.391-16132dup
ENST00000629531.1:c.132+16607dup
(H2BC3)
ENSP00000486472.1:n.132+16607dup
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