ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827627498
Gene: ABCC6
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000499255
ClinVar Variation:
433322
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338729.1:p.Leu1112Ile
CA278628791
NM_001351800.1:c.3334C>A