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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:
CA1087447510
Gene: HCP5
HGNC
NCBI
Linked Data
gnomAD v3:
6-31464027-TGGGCA-T
gnomAD v4:
6-31464027-TGGGCA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31464028_31464032del , CM000668.2:g.31464028_31464032del
GRCh38
NC_000006.11:g.31431805_31431809del , CM000668.1:g.31431805_31431809del
GRCh37
NC_000006.10:g.31539784_31539788del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_040662.1:n.758_762del
Search 100 bp 5'
Search 100 bp 3'