ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580161617
Gene: PIEZO1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002718399
ClinVar Variation:
2234154
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136336.2:p.Glu679Lys
CA286424090
NM_001142864.4:c.2035G>A