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: PA645385958

Gene: CTSD HGNC NCBI

Linked Data

ClinVar Variation Id: 392231

ClinVar RCV Id: RCV000420091 RCV001037357 RCV001335880

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001900.1:p.His273Tyr	CA5814062 NM_001909.5:c.817C>T