ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741989397
Gene: PHAX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2545020
ClinVar RCV Id:
RCV004314774
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115553.2:p.Thr47Met
CA3390034
NM_032177.4:c.140C>T