ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829839456
Gene: ABCA12
HGNC
NCBI
Linked Data
ClinVar Variation Id:
334266
ClinVar RCV Id:
RCV000356196
RCV001464963
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056472.2:p.Ala158Val
CA2092235
NM_015657.4:c.473C>T