ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826117448
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_001170904.1:p.Ile216Met
CA386656096
NM_001177433.1:c.648C>G