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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
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Canonical Allele Identifier:
CA2245719676
Gene: PHF23
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.7239528_7239532delinsTCCTC , CM000679.2:g.7239528_7239532delinsTCCTC
GRCh38
NC_000017.10:g.7142847_7142851delinsTCCTC , CM000679.1:g.7142847_7142851delinsTCCTC
GRCh37
NC_000017.9:g.7083571_7083575delinsTCCTC
NCBI36
NG_033038.1:g.13_17delinsGAGGA
Transcript Alleles
HGVS
Amino-acid change
ENST00000570899.1:c.46+54_46+58delinsGAGGA
ENSP00000458416.1:n.46+54_46+58delinsGAGGA
XM_006721576.2:c.46+54_46+58delinsGAGGA
XP_006721639.1:n.46+54_46+58delinsGAGGA
XM_024450938.1:c.46+54_46+58delinsGAGGA
XP_024306706.1:n.46+54_46+58delinsGAGGA
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