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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:
CA1117235987
Gene: NACA4P
HGNC
NCBI
Linked Data
dbSNP Id:
rs1806906622
gnomAD v3:
8-101363050-GT-G
gnomAD v4:
8-101363050-GT-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.101363051del , CM000670.2:g.101363051del
GRCh38
NC_000008.10:g.102375279del , CM000670.1:g.102375279del
GRCh37
NC_000008.9:g.102444455del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000419462.1:n.285+973del
Search 100 bp 5'
Search 100 bp 3'