ClinGen Allele Registry
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Canonical Allele Identifier:
PA104788
Gene: ABCA12
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000002995
RCV000250672
RCV000293292
RCV002054411
RCV002490301
ClinVar Variation:
2861
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775099.2:p.Asp2365Asn
CA252481
NM_173076.3:c.7093G>A