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: PA2825288322

Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371341

ClinVar RCV Id: RCV000589803 RCV000723417 RCV001004575 RCV001045155 RCV001248932

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007594.2:p.Pro185Leu	CA16041479 NM_001007593.3:c.554C>T