ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829839593
Gene: ABCA12
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000345632
RCV001358602
RCV002487485
RCV003155165
ClinVar Variation:
334259
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056472.2:p.Asn360Ser
CA2092073
NM_015657.4:c.1079A>G