ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573098014
Gene: PEX16
HGNC
NCBI
Linked Data
ClinVar Variation Id:
304784
ClinVar RCV Id:
RCV000264356
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476515.2:p.Pro328Leu
CA5959688
NM_057174.3:c.983C>T