ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573074862
Gene: PIEZO2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000224177
ClinVar Variation:
235842
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365112.1:p.Thr2334Ile
CA10581453
NM_001378183.1:c.7001C>T