Canonical Allele Identifier: PA083507
Gene: PIEZO1 HGNC NCBI
ClinVar Allele:
224857
ClinVar RCV:
RCV000208749
ClinVar Variation:
223131
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136336.2:p.Val2171Phe
CA083444
NM_001142864.4:c.6511G>T