ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826118047
Gene: TRPV4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000202538
ClinVar Variation:
126475
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170904.1:p.Leu602Met
CA347781
NM_001177433.1:c.1804C>A