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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:
CA2635788891
Gene: PHF23
HGNC
NCBI
Linked Data
gnomAD v4:
17-7239531-TC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.7239534del , CM000679.2:g.7239534del
GRCh38
NC_000017.10:g.7142853del , CM000679.1:g.7142853del
GRCh37
NC_000017.9:g.7083577del
NCBI36
NG_033038.1:g.13del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000570899.1:c.46+54del
ENSP00000458416.1:n.46+54del
XM_006721576.2:c.46+54del
XP_006721639.1:n.46+54del
XM_024450938.1:c.46+54del
XP_024306706.1:n.46+54del
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