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: PA2825206077

Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2952378

ClinVar RCV Id: RCV003815529

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000534.3:p.Tyr442del	CA379374518 NM_000543.5:c.1323T>A CA379374521 NM_000543.5:c.1323T>G CA379374539 NM_000543.5:c.1326C>A CA379374543 NM_000543.5:c.1326C>G CA2740093612 NM_000543.5:c.1323_1325del