ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104805
Gene: PIEZO1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003955382
ClinVar Variation:
242667
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136336.2:p.Ser1117Leu
CA082757
NM_001142864.4:c.3350C>T