ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828843777
Gene: SLC45A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
428598
ClinVar RCV Id:
RCV000492063
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366545.1:p.Ala179Val
CA570148
NM_001379616.1:c.536C>T