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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:
CA2540703879
Gene: PRKY
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.7378701del , CM000686.2:g.7378701del
GRCh38
NC_000024.9:g.7246742del , CM000686.1:g.7246742del
GRCh37
NC_000024.8:g.7306742del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000528056.5:n.4371del
NR_028062.1:n.4371del
Search 100 bp 5'
Search 100 bp 3'