ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573066530
Gene: ABCC6
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000499311
RCV002496917
ClinVar Variation:
433223
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001162.5:p.Arg382Trp
CA7926454
NM_001171.6:c.1144C>T