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: PA645508702

Gene: SMARCAL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 392886

ClinVar RCV Id: RCV000421318

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_054859.2:p.Leu397Pro	CA16604116 NM_014140.4:c.1190T>C