ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645473084
Gene: VAC14
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060522.3:p.Ser583Leu
CA10586216
NM_018052.5:c.1748C>T