ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA347012
Gene: SLC52A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000191983
RCV001266471
RCV001778780
ClinVar Variation:
210038
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078807.1:p.Ser128Leu
CA347010
NM_024531.5:c.383C>T