ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253180
Gene: SLC45A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057264.3:p.Ala486Val
CA253179
NM_016180.4:c.1457C>T