ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827626875
Gene: ABCC6
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000499233
RCV001857038
RCV002481595
ClinVar Variation:
433242
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338729.1:p.Ser286Phe
CA7926408
NM_001351800.1:c.857C>T