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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:
CA2567158687
Gene: PPL
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.4951427_4951428del , CM000678.2:g.4951427_4951428del
GRCh38
NC_000016.9:g.5001428_5001429del , CM000678.1:g.5001428_5001429del
GRCh37
NC_000016.8:g.4941429_4941430del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000592772.1:c.-92+9136_-92+9137del
ENSP00000467699.1:n.-92+9136_-92+9137del
Search 100 bp 5'
Search 100 bp 3'