ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580515567
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2116724
ClinVar RCV Id:
RCV003035149
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_671737.1:p.Ile216Met
CA386656096
NM_147204.2:c.648C>G