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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:
CA2203618597
Gene: PPL
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.4951211_4951212delinsCA , CM000678.2:g.4951211_4951212delinsCA
GRCh38
NC_000016.9:g.5001212_5001213delinsCA , CM000678.1:g.5001212_5001213delinsCA
GRCh37
NC_000016.8:g.4941213_4941214delinsCA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000592772.1:c.-92+9352_-92+9353delinsTG
ENSP00000467699.1:n.-92+9352_-92+9353delinsTG
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