ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253182
Gene: SLC45A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057264.3:p.Asp157Asn
CA253181
NM_016180.4:c.469G>A