ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915990929
Gene: SLC45A2
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_057264.4:p.Leu374Phe
NM_016180.5:c.1122G>C
NM_016180.5:c.1122G>T