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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:
PA2826213404
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
183120
ClinVar RCV Id:
RCV000161994
RCV000238217
RCV000775072
RCV004017445
RCV002399589
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Pro485Ser
CA023533
NM_001195799.2:c.1453C>T