ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645439463
Gene: ABCA12
HGNC
NCBI
Linked Data
ClinVar Variation Id:
334259
ClinVar RCV Id:
RCV000345632
RCV001358602
RCV003155165
RCV002487485
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775099.2:p.Asn678Ser
CA2092073
NM_173076.3:c.2033A>G