ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829840618
Gene: ABCA12
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000490250
ClinVar Variation:
427219
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056472.2:p.Ser2073Asn
CA350793936
NM_015657.4:c.6218G>A