ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092232
Gene: AVPR2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000045.1:p.Arg104Cys
NM_000054.7:c.310C>T