ClinGen Allele Registry
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Canonical Allele Identifier:
PA645439525
Gene: ABCA12
HGNC
NCBI
Linked Data
ClinVar Variation Id:
334234
ClinVar RCV Id:
RCV000382053
RCV002051702
RCV003362759
RCV003574754
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775099.2:p.Ser1850Pro
CA2091195
NM_173076.3:c.5548T>C