ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573066716
Gene: ABCC6
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000006948
RCV000132640
RCV001529533
RCV002253194
RCV002253195
RCV002504758
ClinVar Variation:
6570
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001162.5:p.Arg1268Gln
CA232833
NM_001171.6:c.3803G>A