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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:
PA198513
Gene: NALCN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187773
ClinVar RCV Id:
RCV000167530
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443099.1:p.Leu590Phe
CA198512
NM_052867.4:c.1768C>T