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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:
PA645373482
Gene: CDH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418791
ClinVar RCV Id:
RCV000479592
RCV000775935
RCV000821233
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004351.1:p.Val100Ile
CA16620234
NM_004360.5:c.298G>A