ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA239003
Gene: SLC46A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193481
ClinVar RCV Id:
RCV000173553
RCV000374961
RCV003947463
RCV004020060
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542400.2:p.Ala53Val
CA026499
NM_080669.6:c.158C>T