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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:
CA1902247263
Gene: NAMPTP1
HGNC
NCBI
Linked Data
dbSNP Id:
rs2505568
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.36522408T>G , CM000672.2:g.36522408T>G
GRCh38
NC_000010.10:g.36811336T>G , CM000672.1:g.36811336T>G
GRCh37
NC_000010.9:g.36851342T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000440465.1:n.1827A>C
Search 100 bp 5'
Search 100 bp 3'