ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916013767
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288256
ClinVar RCV Id:
RCV000298949
RCV000345924
RCV000766589
RCV001277301
RCV003977800
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269606.1:p.Val954Met
CA4340911
NM_001282677.2:c.2860G>A