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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:
CA1123158824
Gene: PHF24
HGNC
NCBI
Linked Data
gnomAD v3:
9-34825247-T-TG
gnomAD v4:
9-34825247-T-TG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.34825248dup , CM000671.2:g.34825248dup
GRCh38
NC_000009.11:g.34825245dup , CM000671.1:g.34825245dup
GRCh37
NC_000009.10:g.34815245dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_011517827.1:c.-66+15089dup
XP_011516129.1:n.-66+15089dup
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