ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573066512
Gene: ABCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281270
ClinVar RCV Id:
RCV000300804
RCV000499195
RCV002291274
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001162.5:p.Leu248Phe
CA7926582
NM_001171.6:c.742C>T