ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826665860
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000175014
RCV001079967
RCV003937570
ClinVar Variation:
194604
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269607.1:p.Pro674Leu
CA240669
NM_001282678.2:c.2021C>T