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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:
PA2827569407
Gene: NALCN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
375370
ClinVar RCV Id:
RCV000416463
RCV001092912
RCV002521493
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337679.1:p.Ile322Thr
CA16044232
NM_001350750.2:c.965T>C