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: PA645510420

Gene: PIEZO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 440037

ClinVar RCV Id: RCV001788243 RCV001692157 RCV001788242

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001136336.2:p.Pro1857Ser	CA8231842 NM_001142864.4:c.5569C>T