ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139764603
Gene: ASPRV1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_690005.2:p.Pro314Thr
CA347150590
NM_152792.2:c.940C>A