ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139764601
Gene: ASPRV1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_690005.2:p.Arg311Pro
CA347150603
NM_152792.2:c.932G>C