ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829727835
Gene: CAVIN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3137858
ClinVar RCV Id:
RCV004430170
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036364.2:p.Glu350Ala
CA399582653
NM_012232.6:c.1049A>C