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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:
CA2693514173
Gene: NDP
HGNC
NCBI
Linked Data
gnomAD v4:
X-43949676-G-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.43949676G>T , CM000685.2:g.43949676G>T
GRCh38
NC_000023.10:g.43808922G>T , CM000685.1:g.43808922G>T
GRCh37
NC_000023.9:g.43693866G>T
NCBI36
NG_009832.1:g.29000C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000642620.1:c.*123C>A
MANE Select
ENSP00000495972.1:n.*123C>A
ENST00000647044.1:c.*123C>A
ENSP00000495811.1:n.*123C>A
ENST00000378062.5:c.*123C>A
ENSP00000367301.5:n.*123C>A
NM_000266.3:c.*123C>A
NP_000257.1:n.*123C>A
NM_000266.4:c.*123C>A
MANE Select
NP_000257.1:n.*123C>A
Search 100 bp 5'
Search 100 bp 3'