ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826117945
Gene: TRPV4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000202498
ClinVar Variation:
126471
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170904.1:p.Ile497Met
CA347750
NM_001177433.1:c.1491C>G