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: PA2825288616

Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93313

ClinVar RCV Id: RCV000178118 RCV000984310 RCV000984311

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007594.2:p.Cys432Trp	CA221144 NM_001007593.3:c.1296T>G