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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
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Canonical Allele Identifier:
CA2203618606
Gene: PPL
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.4951218_4951220delinsCAG , CM000678.2:g.4951218_4951220delinsCAG
GRCh38
NC_000016.9:g.5001219_5001221delinsCAG , CM000678.1:g.5001219_5001221delinsCAG
GRCh37
NC_000016.8:g.4941220_4941222delinsCAG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000592772.1:c.-92+9344_-92+9346delinsCTG
ENSP00000467699.1:n.-92+9344_-92+9346delinsCTG
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