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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:
CA2586311378
Gene: NTF4
HGNC
NCBI
Linked Data
gnomAD v4:
19-49060688-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.49060691del , CM000681.2:g.49060691del
GRCh38
NC_000019.9:g.49563948del , CM000681.1:g.49563948del
GRCh37
NC_000019.8:g.54255760del
NCBI36
NG_016289.1:g.8179del
Transcript Alleles
HGVS
Amino-acid change
ENST00000599795.5:c.243+1066del
ENSP00000470689.1:n.243+1066del
XM_011527575.1:c.40+24del
XP_011525877.1:n.40+24del
XR_001753693.1:n.879+475del
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