ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573235281
Gene: PEX11B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1387218
ClinVar RCV Id:
RCV001905982
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003837.1:p.Thr249Asn
CA342120281
NM_003846.3:c.746C>A