ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580546815
Gene: PXDC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
2333204
ClinVar RCV:
RCV004194492
ClinVar Variation:
2351373
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_899229.2:p.Ser147Asn
CA3620212
NM_183373.4:c.440G>A