Allele Registry

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.

Canonical Allele Identifier: PA2825894499

Gene: NFIA HGNC NCBI

Linked Data

ClinVar Variation Id: 423556

ClinVar RCV Id: RCV000484251

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001138984.1:p.Cys148Ser	CA16617175 NM_001145512.2:c.443G>C CA340586747 NM_001145512.2:c.442T>A