ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA352210
Gene: PIEZO1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000208773
ClinVar Variation:
223133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136336.2:p.Pro2430Leu
CA352209
NM_001142864.4:c.7289C>T